22q11.2 deletions syndrome (Velo-Cardio-Facial Syndrome) FTNW

Velo-Cardio- 

Facial Syndrome 

(22q11.2 deletion 

syndrome)

Sources 

The information in this 

leaflet is drawn partly 

from the published 

medical literature. 

The first-named author 

and publication date are 

given to allow you to 

look for the abstracts or 

original articles on the 

internet in PubMed 

(http:// 

www.ncbi.nlm.nih.gov/ 

pubmed/). If you wish, 

you can obtain most 

articles from Unique. In 

addition, this leaflet 

draws on information 

from a survey of 

members of Unique 

conducted in 2010, 

referenced Unique. When 

this leaflet was written 

Unique had 65 members 

with a pure 22q11.2 

deletion without loss or 

gain of material from any 

other chromosome. 

These members range in 

age from a baby to an 

adult aged 55 years. 

A few people, described 

in the medical literature 

and seven members of 

Unique, have a loss or 

gain of material from 

another chromosome 

arm as well as a 22q11.2 

deletion, usually as a 

result of a chromosome 

change known as a 

translocation. As these 

people do not show the 

effects of a „pure‟ 

deletion, they are not 

considered in this leaflet. 

Unique holds a list of 

these cases in the 

medical literature and 

the karyotypes of those 

in Unique; this is available 

on request. 

Velo-cardio-facial syndrome 

Velo-cardio-facial syndrome, also called 22q11.2 deletion 

syndrome, is caused by a small missing piece of genetic material 

from one copy of chromosome 22. For normal development 

and function, chromosomes should contain the right amount of 

genetic material (DNA) – not too much and not too little. 

Like most other chromosome disorders, having even a small 

part of chromosome 22 missing may increase the risk of 

congenital anomalies, developmental delay and learning 

difficulties. However, the problems vary from person to person. 

Background on Chromosomes 

Chromosomes are structures found in the nucleus of the body‟s 

cells. Every chromosome contains thousands of genes which 

may be thought of as individual instruction booklets (or recipes) 

that contain all the genetic information telling the body how to 

develop, grow and function. Chromosomes (and genes) usually 

come in pairs with one half of each chromosome pair being 

inherited from each parent. Humans have 23 pairs of 

chromosomes giving a total of 46 individual chromosomes. 

Of these 46 chromosomes, two are the sex chromosomes that 

determine gender. Females have two X chromosomes and 

males have one X chromosome and one Y chromosome. 

The remaining 44 chromosomes are grouped in 22 pairs, 

numbered 1 to 22 approximately from the largest to the 

smallest in size. Each chromosome has a short or petit (p) arm 

(shown at the top in the diagram on page 3) and a long (q) arm 

(the bottom part of the chromosome). 

Chromosome Deletions 

A sperm cell from the father and an egg cell from the mother 

each carry just one copy of each chromosome. When they join 

together they form a single cell that now carries two copies of 

each chromosome. Sometimes during the formation of the egg 

or sperms cells parts of the chromosomes can break off or 

become arranged differently from usual. People with a 22q11.2 

deletion have one intact chromosome 22, but a piece from the 

long arm of the other copy is missing or deleted. For most 

people with VCFS, approximately 40 genes are missing that can 

affect a person‟s learning and physical development. 

Therefore it is believed that most of the clinical difficulties are 

probably caused by having only one copy (instead of the usual 

two) of a number of genes. We are still learning about the 

specific jobs or functions of the genes in these regions. Also, it 

is important to keep in mind that a child‟s other genes, 

environment and unique personality all help to determine future 

development, needs and achievements. 

2

Looking at 22q11.2 

Chromosomes can‟t be seen with the naked eye but if they 

p arm 

are stained and magnified under a light microscope it is 

possible to see that each one has a distinctive pattern of light 

and dark bands that look like horizontal stripes. By looking at 

centromere 

your child‟s chromosomes in this way, it is possible (if the 

missing piece is large enough) to see the points where the 

chromosome has broken and to see what material is missing. 

However, because the amount of material missing is often 

quite small, in this type of routine analysis your child‟s 

chromosomes may have looked normal. Consequently there 

are certainly people with a 22q11.2 deletion who have not 

q arm 

yet been diagnosed. 

Only molecular DNA technology can identify it. In some 

cases, a test known as FISH (Fluorescence In Situ 

Hybridization), specific to identifying VCFS, is used. 

The most recent technique is known as microarrays (array- 

CGH). This shows losses (and gains) of tiny amounts of 

DNA throughout the chromosomes. Microarrays can show whether particular genes 

or bits of genes are present once, twice or three times or not at all. These very small 

deletions that can‟t be seen even under a high-powered light 

microscope are called microdeletions. 

In the diagram of chromosome 22 above the bands are 

numbered outwards starting from where the short and long 

arms meet (the centromere). People with a 22q11.2 deletion 

have all, or part of the band q11.2 missing. These deletions are 

known as interstitial deletions, because a piece of the long arm 

of chromosome 22 (band q11.2) is missing but the rest of the 

bp = base pair 

kb = kilobase pair or 1000 base pairs 

Mb = megabase pair or 1 million base 

long arm of chromosome 22 (bands q12 and q13) is still present. 

Band 22q11.2 contains around 3 million base pairs. This sounds 

like a lot but it is actually quite small and is six per cent of the 

DNA on chromosome 22 (one of the smallest chromosomes). 

Chromosome 22 has around 49 million base pairs and is about 

1.5-2 per cent of the total DNA in our cells. Base pairs are the 

chemicals in DNA that form the ends of the „rungs‟ of its 

ladder-like structure. 

VCFS or Shprintzen syndrome 

(Shprintzen 1978, Meinecke 1981) 

derives from the observations made 

by Dr Robert Shprintzen who noted 

the characteristic facial features together with heart and palate problems. It is also 

often called DiGeorge syndrome (Sedlacková 1955; Strong 1968; Kretschmer et al, 

1968) after Dr Angelo DiGeorge who described the syndrome in the 1960s. In 1992, it 

was discovered that the condition referred to as velo-cardio-facial syndrome and the 

condition many called DiGeorge syndrome both were caused by deletions of 22q11.2 

(Scambler 1992), leading to the term 22q11.2 deletion syndrome (22q11.2DS). 

3

Results of the chromosome test 

Your geneticist or genetic counsellor will be able to tell you about the point where the 

chromosome has broken in your child. You will almost certainly be given a karyotype 

which is shorthand notation for their chromosome make-up. With VCFS, the results 

are likely to read something like the following example: 

46, XX, del(22)(q11.2q11.2)dn 

46 The total number of chromosomes in your child‟s cells 

XX The two sex chromosomes, XY for males; XX for females 

del A deletion, or material is missing 

(22) The deletion is from chromosome 22 

(q11.2q11.2) The chromosome has two breakpoints, both in band 22q11.2, and 

material between these breakpoints is missing 

dn The deletion occurred de novo (or as a “new event”). The parents‟ 

chromosomes have been checked and no deletion or other chromosome 

change has been found at 22q11.2. The deletion is very unlikely to be 

inherited and has almost certainly occurred for the first time in this family 

with this child 

In addition to, or instead of a karyotype you may be given the results of molecular 

analysis such as FISH or array-CGH for your child. In this case the results are likely to 

read something like one of the following examples: 

46,XX.ish del (22)(q11.2q11.2)(D22S134-) 


XX The two sex chromosomes, XY for males; XX for females 

ish The analysis was by fluorescent in situ hybridisation (FISH) 



(q11.2q11.2) The chromosome has two breakpoints, both in band 22q11.2 and 

material between these two breakpoints is missing 

(D22S134-) One copy of the DNA segment (marker) called D22S134 is missing 

46,XY.arr cgh del(22)(q11.21q11.23)(20128104->22069437)x1 


XY The two sex chromosomes, XY for males; XX for females 

.arr cgh The analysis was by array-CGH 



(q11.21q11.23) 

The chromosome has two breakpoints, one in band 22q11.21 and one in 

band 22q11.23 and material between these two breakpoints is missing 

(20128104->22069437). The base pairs between 20,128,104 (around 

20Mb) and 22,069,437 (around 22 Mb) have been shown to be missing. 

Take the first long number from the second and you get 1,941,333. This 

is the number of base pairs that are deleted. x1 means there is one 

copy of these base pairs, not two – one on each chromosome 22 – as 

you would normally expect. 

4

Most common features 

Every person with VCFS is unique and so each person will have different medical and 

developmental concerns. There is an enormous variability in the effects of a 22q11.2 

deletion, even within the same family and between identical twins (Goodship 1995; 

Yamagishi 1998). Additionally, no one person will have all of the features listed in this 

guide. However, a number of common features have emerged: 

• Heart conditions (approximately 70 per cent) 

• An abnormality of the palate resulting in nasal speech (approximately 70 per cent) 

• Characteristic facial features 

• Low levels of calcium in the blood, called hypocalcaemia (which can result 

in seizures) 

• Feeding difficulties 

• Kidney problems 

• Development and speech delay 

• Variable difficulties in learning and cognition, ranging from mild (most cases) to 

more severe. Children will often need support with learning, although the amount 

of support needed by each child will vary 

• Immune system difficulties 

• Growth may be at a different speed from the general population, but adult height is 

almost always normal 

• Behavioural, emotional and psychiatric disorders including attention deficit 

hyperactivity disorder, generalized anxiety and in the most severe cases, psychosis 

How common is 22q11.2 deletion syndrome 

It is the most commonly occurring chromosome deletion syndrome and the second 

most common genetic cause of congenital heart defects. Congenital means a condition 

which a child is born with. It is reported to affect 1 in 2000 people and there have been 

more than 1500 cases reported in the medical literature worldwide. The deletion 

occurs with equal frequency in males and females. Despite the prevalence VCFS is often 

underdiagnosed because the features can be mild and/or highly variable. The condition 

may actually be more common than this estimate, however, because some people with 

a 22q11.2 deletion are not diagnosed with the disorder (Shprintzen 2008; Green 2009). 

Are there people with 22q11.2 deletions who are healthy, have no 

major medical problems or birth defects and have developed within 

the normal range 

Yes, there are. Some people with a 22q11.2 deletion are affected very mildly. 

Some parents of children with 22q11.2DS have the same deletion but do not have any 

obvious unusual features or delayed development. The signs in other parents with the 

deletion are so subtle that they have not been diagnosed until later life following the 

birth of a child with more obvious features. Some children with 22q11.2DS may also be 

mildly affected. 

What is the outlook 

There are some reports in the literature of neonatal death, most commonly due to 

severe cardiac problems. Progress in the management of cardiac disease has improved 

5

the prognosis of babies with cardiac anomalies, and the vast majority of babies with 

VCFS have successful corrections of their heart problems (either with time or surgery). 

Immune problems generally subside with time and speech problems respond well to 

speech therapy and if necessary surgery. For children with no serious heart or other 

organ problems, lifespan should not be significantly affected and there are many adults 

reported in the medical literature (see Adults with VCFS page 18). 

Her general health is very good. She is happy and healthy – 8 years 

Pregnancy and birth 

Most mothers carrying babies with VCFS experienced no pregnancy problems, had a 

normal delivery and only discovered their baby was affected after the birth. 

However, as cardiac defects and/or a cleft palate are common in 22q11.2DS, babies 

who have these anomalies detected on a prenatal ultrasound sound scan in the second 

trimester may have their chromosomes tested (either by amniocentesis or chorionic 

villus sampling (CVS)). The published medical literature contains many examples of 

prenatal diagnoses of VCFS (Goktolga 2008; Unique). 

Three Unique mothers reported polyhydramnios (an unusually high volume of amniotic 

fluid) during pregnancy. Polyhydramnios can result in a premature delivery due to 

overdistension of the uterus. Polyhydramnios has also been reported in the medical 

literature (Vantrappen 1999; Unique). 

Growth and feeding 

Babies are not typically small and underweight at birth and birth weights recorded at 

Unique show a considerable variation with an average of 2.92 kilos (6lb 7oz). Around a 

quarter of the Unique babies had a low birth weight (below 2.6 kilos or 5 lb 12oz) at 

term (Unique). 

4 years 

Range of birthweights at Unique (at or near term): 

1.871 kilos (4lbs 2oz) to 3.997 kilos (8lb 13oz) 

Although children are often short, many of them 

catch up after puberty and attain a normal adult 

height. However, in a study of 95 children between 

the ages of one and 15 years, almost half were small 

in comparison to their peers with around four per 

cent being very small. Many Unique children have had 

slow weight gain and are small and of slim build 

(Weinzimer 1998; Unique). However, their growth 

proceeds more normally in adolescence and nearly 

all people with VCFS reach adult height in the normal 

range. One issue that may affect growth more 

severely is the presence of severe pulmonary valve 

or artery anomalies. Very few cases are treated with 

growth hormone. 

Feeding difficulties, especially in the newborn period, 

are a major area of concern for families, affecting 

around 30 per cent of those with VCFS. 

6

Many families have found that a feeding specialist is often helpful. Feeding problems 

include food coming through the nose (nasal regurgitation) because of the palatal 

weakness and gastro-oesophageal (GO) reflux (in which feeds return readily up the 

food passage). In the Unique survey, almost a third of babies had reflux. This can 

generally be well controlled by giving feeds slowly, positioning a baby semi-upright for 

feeds and where necessary raising the head of the end of the bed for sleeping. Feed 

thickeners and prescribed medicines to inhibit gastric acid may control reflux. If these 

measures are not enough, a few babies may benefit from a fundoplication, a surgical 

operation to improve the valve action between the stomach and food passage 

(McDonald-McGinn 2004; Unique), but this should not be necessary in most cases. 

The hypotonia that is common 

in babies with VCFS can lead to 

difficulties with sucking and 

swallowing, and/or latching onto 

the breast. Babies with a cleft 

palate can also find the action of 

sucking and swallowing difficult. 

Several of the mothers surveyed 

by Unique successfully breastfed 

their babies. A number of 

Unique babies benefited from a 

temporary nasogastric tube (NG 

-tube, passed up the nose and 

down the throat). 

As some of these babies 

matured enough to suck 

effectively, the NG-tube could 

be removed and breast or bottle 

feeding established. Several 

3 years 

other babies who initially benefited from temporary NG-tubes later needed 

gastrostomy tubes (a G-tube, feeding direct into the stomach) in order to meet their 

nutritional needs (Unique). 

Some older babies and toddlers have trouble chewing and can choke or gag on lumps in 

food so may continue to eat puréed food for longer than their peers and the start of 

finger feeding may be delayed. Parents have found that modifying the texture of foods 

by grating, mincing, chopping or adding sauces to foods can help to overcome these 

problems. As a result of these feeding difficulties a number of families have consulted a 

dietician. Many families report that feeding difficulties often resolve by school age 

(Unique). 

He has nasal regurgitation. He has a sub-mucous cleft palate and a poor suck reflex. 

Whenever we went to the next stage of feeding he struggled with solids and gags on 

bits. He vomits a lot when introduced to something new – 4 years 

7

Appearance 

Children with VCFS may look similar, although the facial characteristics noted are often 

very subtle and are actually variants of normal. They often have a small mouth and chin, 

a broad bridge to the nose, and sometimes small ears with overfolded or thickened 

rims. Facial features change with age and the nose may become slightly more prominent 

in adulthood. Other features may include a slightly open mouthed expression and 

abundant scalp hair. 

Development: sitting, moving, walking (gross motor skills) 

Some people with VCFS will have entirely normal development, but often they are a 

little slow to reach their developmental motor milestones with delays in learning how 

to crawl and walk in comparison to other children. This could be due to your child 

being very sick and spending time in hospital or be due to problems associated with the 

deletion such as poor motor skills, muscle tone (hypotonia) and lack of co-ordination. 

Hypotonia affects most children with VCFS and often improves as children mature; 

nonetheless, early physiotherapy and occupational therapy can be beneficial. 

Some children will only have mild delays others will have more significant 

problems. The Unique experience is that babies start to roll between 3 months and 12 

months (average 8 months); sit between 6 months and 20 months (average 10 months) 

and crawl between 6 months and 21 months (average 13 months). Independent walking 

was mastered between 12 months and 2 years 10 months (average 19 months). 

The average age for walking for children with VCFS in the medical literature is 12 

months, although many children walk 

later and up to 18 months is 

considered normal. The majority of 

children go on to walk, skip, hop, 

climb stairs and run, although they can 

be unsteady with poor balance (Fine 

2005; Unique). 

He is fast crawling and now starting 

to walk. He climbs everything! – 20 

months 

She is fine sitting, walking and 

running (sort of), can jump (just) and 

can walk up the stairs holding on to 

the rail. Outdoors she is a bit more 

wobbly – I think we are also more 

nervous of her falling down and 

hurting herself outside. She is 

confident walking and running on 

grass, but uneven pavements are more 

tricky – 3 years 

She has no mobility problems – 8 

years 

Her mobility is fine although she is 

slow with stairs – 25 years 

8

Development: hand-eye co-ordination and dexterity (fine motor 

skills) and self care 

Hypotonia can also affect fine motor skills in children with VCFS and they may take 

longer to reach for and grab toys and hold a bottle or cup. This can lead to delays in 

children being able to self-feed, dress themselves (zips and buttons can be especially 

problematic) and hold a pen to write or draw. Special chunky cutlery, cups with handles 

and cutting up food have helped some children. For those children who have problems 

holding and controlling a writing implement, mastering a keyboard or touch screen 

computer can often be easier (Unique). 

Toilet training may also be affected. The information at Unique shows that consistent 

toilet training was mastered between 2 years and 16 years (average 3½ years) 

(Unique). 

She is only in nappies at night now. Her fine motor skills have been assessed as being 

better than her gross motor skills, but she does lack some fine control, for example 

manipulating puzzle pieces or pins into holes on a board. She has no trouble holding 

cutlery, bottle or toys and she holds a pencil perfectly already! – 3 years 

As a young baby he needed help holding his bottle until he was 8 months. He is still in 

nappies day and night – 4 years 

She has no problems with fine motor skills, she is not in nappies, she can wash and 

shower alone, brush her teeth and hair. She is a normal 8-year-old 

She had some small motor issues for example with zips and buttons but worked with 

an occupational therapist. She took longer than usual to potty train – 10 years 

He was in nappies at night until 9 years 

She has a strange way of holding pencils and pens – 25 years 

She has a slight tremor and tends to be a bit clumsy – 31 years 

Speech and communication 

Many children with VCFS learn to speak well. However, speech is often mildly delayed. 

This may be due to hypotonia, palate or ear problems. Typically children with VCFS 

develop first words around the age of 18 months to two years but then do not reach 

the next stage of language development (short phrases and sentences) until between 

the ages of three and five years. Those with a cleft palate or other palate problems have 

specific difficulty with certain sounds. In approximately 70 per cent of those with VCFS 

speech is hypernasal making it harder for them to be understood. As a result of not 

being understood, parents and carers may not reinforce early speech attempts. The 

most common articulation pattern in children with VCFS is the development of glottal 

stop substitutions for sounds requiring oral pressure. This is a type of articulation 

error, often confused for an omission, where a sound is articulated in the larynx 

(sounding like a cough) and substituted for a sound normally articulated in the oral 

cavity. In VCFS, glottal stops are often substituted for all other consonants except m, n, 

and ng. In general, expressive speech is particularly affected in children with VCFS, 

while receptive language skills are stronger, although still impaired. Expressive language 

tends to increase after four or five years of age when both speech therapy and palate 

surgery have taken place. However, articulation problems may persist if not correctly 

9

treated (Fine 2005; Baylis 2008; Shprintzen 2008; Unique). 

He uses gestures, vocal noises, pointing and signing. He is just starting to talk – 20 

months 

She uses talking to communicate and a handful of signs. She had initial speech delay 

and her speech is still significantly delayed especially in sound production. Her 

expressive language is worse than her receptive language. In fact her receptive 

communication skills have recently been measured as average for her age. In terms of 

teaching her speech, it is all about repetition. Specific speech sound work in a fun and 

engaging manner has worked for her – 3 years 

He speaks in two-word phrases and most of the time it is hard to make out what he 

is saying without him showing or taking a person to what he is talking about – 4 years 

She started speaking at 7 years. She uses signs, gestures and some speech. She can 

speak in full sentences but most of it is not understandable – 8 years 

She was delayed in communicating feelings and emotions. She needed lots of therapy 

to use words versus aggression or rages – 10 years 

He mostly uses full sentences but sometimes uses the wrong tense. His speech is 

slightly nasal – 11 years 

He has no speech problems, although uses short sentences and tends to answer 

questions rather than begin a conversation – 18 years 

She speaks in complex sentences. She sometimes has trouble with words but usually 

finds a suitable one. Her speech is nasal and people used to find it hard to understand 

her – 20 years 

She speaks fine! Initially her speech was very nasal – 25 years 

Learning 

The average IQ in children with VCFS has been reported to be in the mid 70s in many 

recent studies. This average score compares to the average score of 100 in the general 

population. IQ scores of 80 – 120 are considered to be the normal range. This means 

that slightly more than half of children with VCFS have lower than normal IQs although 

almost half have an IQ in the normal range. However, nearly all people with VCFS have 

specific learning disabilities, primarily in the areas of problem solving, reading 

comprehension and mathematics. These specific learning differences result in many 

children requiring special help in school. Most children will attend mainstream school 

(almost three quarters of Unique children) but may need some classroom assistance or 

special needs lessons. The other 20 – 30 per cent of children benefit from a special 

education school. Two independent studies have suggested girls with VCFS are less 

likely to have difficulties than boys. This is an area that needs further research 

(Antshel 2005; Fine 2005; Okarsdottir 2005; Roizen 2007; Unique). 

As a result of these specific learning differences, most children have relative strengths in 

reading, spelling and rote memorisation but more difficulty with complex maths, 

abstract reasoning and problem solving. A study of 50 children with 22q11.2DS and 

another of 90 adolescents with VCFS both reported that reading and spelling were in 

the low-average range (Woodin 2001; Antshel 2005). Although children with VCFS 

have relative strengths in reading decoding, they may struggle with comprehension and 

10

therefore may find it hard to read to learn. 

They often have difficulty with time concepts, shape, 

colour and size. They can also have disorganised 

thinking and become obsessed with one topic or 

idea. Abstract reasoning may be problematic as 

children tend to think literally. The evidence suggests 

that children with VCFS have stronger verbal than 

visual memory skills and stronger reading than maths 

skills and are often described as having a non-verbal 

learning disorder. They are visual learners who prefer 

to watch and copy, rather than problem solve. 

Specific teaching methods utilising these skills can be 

implemented in order to maximise learning. Small 

group or individual instruction is beneficial. 

Instructions should be clear and specific, using short 

sentences and repeating key words. Children benefit 

from a lot of repetition and routine and computeraided 

learning may help. They also do well with music 

and learning using musical templates can be an 

important tool (Shprintzen 2000; Unique). 

A recent study of 172 people with 22q11.2DS aged 

from 5 to 54 years suggests that there is a decline in 

IQ as children and adolescents enter adulthood 

(Golding-Kushner 1985; Green 2009). This is an area 

that needs further research. 

He loves the computer and learns computer games all by himself. Anything that is 

electronic he can figure out quickly – 4 years 

She struggles with maths but she is strong in reading, PE and music – 8 years 

She has support in school to help her academically and with her behaviour. She needs 

routine and structure and clear expectations to be successful. Her maths skills took off 

when she learned to ice skate through Special Olympics! Her art skills are fabulous. She 

is now a very hard worker which helps her become more successful – 10 years 

He is in a special educational needs unit attached to a mainstream school. He 

struggles with technical subjects such as maths and science, but is better at English, art 

etc. He reads books for younger children and can draw and write (not very tidily but 

OK) – 11 years 

He is now 18 with a spelling age of 12. He finds numeracy very difficult but managed a 

few GCSEs. He is now at agricultural college – 18 years 

Her strengths are music, art and textiles, social awareness and drama. She has 3 A 

levels and is at university. She reads anything from text books to novels – 20 years 

She was in mainstream school throughout and obtained a C in GCSE art. She is 

hopeless at maths, but good at English – 25 years 

She is good at art and enjoys reading soap-style magazines – 31 years 

11 

4 years 3 months

Most likely features 

• Heart problems 

VCFS is the second most commonly seen chromosome disorder in congenital heart 

disease after Down‟s syndrome. Heart problems are reported in around 70 per cent of 

those with VCFS and these heart conditions have often been the trigger for the genetic 

testing which resulted in the diagnosis of VCFS (McDonald-McGinn 1999; Repetto 

2009; Unique). 

Due to the prevalence of heart conditions in VCFS babies and children should have 

their hearts checked. The investigations usually take the form of an echocardiogram, 

(which is a detailed ultra sound 

scan of the heart using a machine 

very similar to those used during 

pregnancy), or an 

electrocardiogram (which 

monitors the heart beat). 

These are not invasive 

procedures and are completely 

harmless and painless. If a heart 

defect is discovered some babies 

and children will require surgery 

to correct the problem, often in 

the newborn period. If your child 

has not been diagnosed with a 

heart defect as a baby, minor 

changes may be found in later 

life, so follow-up cardiac 

assessment even in children who 

are not known to have heart 

problems is recommended. Most 

of these later changes are minor. 

The most common cardiac defects in VCFS are septal defects, but the most obvious 

and easiest to detect anomalies in VCFS affect the main outflows of the heart such as 

the aorta and the pulmonary arteries, with tetralogy of Fallot, truncus arteriosus, and 

interrupted aortic arch being the most common. The heart problems diagnosed in 

individual children may be single or multiple (McDonald-McGinn 1999, Carotti 2008; 

Unique). They include: 

Tetralogy of Fallot (reported in 22 per cent of those with VCFS, and about 15 to 25 

per cent of all TOFs are cases with VCFS). A complex heart condition involving both a 

VSD (see page 13) and an obstruction just below the valve in the artery that leads to 

the lungs. Blue (deoxygenated) blood cannot easily get to the lungs to pick up oxygen 

and some of it flows through the hole into the other pumping chamber from where it is 

pumped around the body. If there are no other risk factors, more than 95 per cent of 

babies with tetralogy of Fallot successfully undergo surgery in the first year of life. 

Interrupted aortic arch (reported in 15 per cent of those with VCFS). The aorta is the 

12

main blood vessel that carries oxygen-rich blood away from the heart to the organs of 

the body. After it leaves the heart, it first ascends in the chest to give off blood vessels 

to the arms and head. Then, it turns downward, forming a semicircular arch, and heads 

toward the lower half of the body. An interrupted aortic arch is the absence or 

discontinuation of a portion of the aortic arch. 

Ventricular septal defects (VSDs) Holes in the wall between the two pumping chambers 

of the heart (ventricles). This allows blood to flow from the left to the right chamber, 

increasing the blood flow to the lungs. Treatment is determined individually. Small VSDs 

may close spontaneously; a larger VSD usually needs surgical repair to prevent lung 

problems that would develop from extra blood flow. 

Truncus arteriosus (reported in seven per cent of those with VCFS) Instead of having 

separate blood vessels leading out of each side of the heart, a baby with a truncus 

arteriosus has a single blood vessel leaving the heart that then branches into vessels 

that go to the lungs and the body. This great vessel usually sits over both the ventricles 

and the upper part of the wall between the two chambers is missing, resulting in a VSD. 

Early surgical repair is usually needed. 

Vascular ring (reported in five per cent of those with VCFS) Abnormal formation of the 

aorta (see diagram on page 12) and/or its surrounding blood vessels. 

Atrial septal defects (ASDs) Holes in the muscular wall between the two filling parts of 

the heart. Some blood flows through from the left to the right side, increasing the 

amount of blood flowing to the lungs. Treatment depends on the type of defect, 

whether it closes spontaneously and its size. Treatment can include medical 

management, taking medications to help the heart to work better, control of potential 

infection to the inner surfaces of the heart and surgical repair with stitches or a special 

patch. 

Aortic arch anomaly. These anomalies arise from unusual patterns of development of 

the aortic arch arteries, such as persistence of prenatal vessels that normally regress, 

and degeneration of vessels that normally continue to develop. 

Others include pulmonary stenosis (the entrance to the artery that takes blood to the 

lungs is unusually narrow. The narrowing usually affects the pulmonary valve and the 

pulmonary artery itself); hypoplastic left heart syndrome (the left side of the heart has 

not developed properly and is very small); bicuspid aortic valve (a congenital defect in 

the aortic valve where the valve has only two cusps (flaps) rather than the usual three. 

The aortic valve ensures that the blood flows only in one direction. When the valve is 

bicuspid there can be a tendency for the valve to leak). 

• Palate 

This is one of the most common areas affected in VCFS with around seventy per cent 

of children having some kind of palate (roof of the mouth) anomaly. The types of 

problems are very variable and can often be a combination of anomalies. The most 

common problem is velopharyngeal insufficiency (VPI) affecting about 70 per cent of 

people with VCFS. The velopharyngeal mechanism is responsible for directing the 

transmission of sound energy and air pressure in both the oral cavity and the nasal 

cavity. When this mechanism is impaired in some way, the valve does not fully close, 

13

and VPI can develop. VPI may be a structural problem (short palate), a functional 

problem (hypotonia of the velopharyngeal muscles), or a combination of the two. 

Sometimes the palate does not form correctly during development. This results in an 

opening in the roof of the mouth. Cleft lip occurs when the tissue that forms the upper 

lip does not fuse during prenatal development and is found only occasionally in VCFS. 

A cleft palate can contribute to the early feeding difficulties seen in children. At least 25 

per cent of people with VCFS have a bifid uvula (the uvula, the little V-shaped fleshy 

mass hanging from the back of the soft palate, is split). 

Babies with palate anomalies often have vomiting through the nose and later have 

hypernasal speech which makes it difficult for the child to be understood (see Speech 

page 9). 

• Immunity 

Many babies and children with VCFS often experience recurrent infections caused by 

problems with their immune system. In babies and young children the immune system is 

controlled by the thymus gland in the chest and sometimes this can be partially or 

completely absent or just not work well. Again the symptoms can be mild or severe. 

Often children are just more susceptible to colds and viral infections and fungal 

infections. Children who are frequently ill should have their immune system checked 

and those with a problem should be referred to an immunologist. Care should be taken 

with immunisations and live vaccines should be avoided in children with severe immune 

system problems. Most children improve with age, but some continue to be affected 

into later childhood and adulthood. Some children develop autoimmune diseases 

related to their immune deficiency, such as juvenile rheumatoid arthritis (which affects 

five Unique members), idiopathic thrombocytopenia (low platelet count), vitiligo 

(depigmentation of patches of skin) and Graves disease (an overactive thyroid) (Smith 

1998; Sullivan 1999; Davies 2001; Sullivan 2004; Unique). 

• Hypocalcaemia (calcium deficiency) 

Calcium is important to the body in the firing nerve endings and muscles. More than 

half of all children with VCFS have calcium levels within the normal range, however less 

than half of all children with VCFS are hypocalcaemic (low calcium levels). This may 

cause jitteriness or in severe cases seizures in young children, or muscle cramps or 

tingling of the mouth and fingers. As a result it is likely your baby‟s calcium levels will be 

monitored. This problem is caused by anomalies of the parathyroid gland which 

produces a hormone called parathyroid hormone (PTH). The low calcium levels usually 

resolve in infancy with most children outgrowing this problem by their first birthday, 

however, some children require calcium supplements for a longer period of time. 

Milder symptoms can be treated by a milky drink at bedtime. Recurrence of 

hypocalcaemia in later childhood has been reported during illness and/or puberty when 

medication may again be needed. It is unlikely that your child will develop 

hypocalcaemia in later childhood if they do not suffer from it as a small baby (Van den 

Bosch 2002; Repetto 2009; Unique). 

• Kidney and urinary tract 

Around a third of children with VCFS have differences in the way their kidneys are 

formed or how they work, such as a single or malformed kidney or kidney 

14

(vesico-ureteral) reflux (where the urine flows upwards from the bladder back up to 

the kidney, potentially damaging the kidneys). In addition, some children have urinary 

tract infections or bedwetting (Wu 2002; Unique). 

• Seizures 

Seizures are seen in both children and adults with VCFS. Seizures may have a number 

of possible causes including hypocalcemia, but in most cases, seizures in VCFS are 

neurologically based and may be accompanied by abnormal EEG recordings. Seizures 

can start at any time in life and vary from mild periods of “blanking out” to severe 

grand mal events. For the majority of children, seizures are well-controlled with 

medication. 

• Vision 

Eye findings in VCFS are common and include tortuous retinal vessels, small optic discs, 

small eyes, clefts in the iris (colobomas), and strabismus where one or both eyes can 

turn inwards, outwards or upwards. 

• Hearing 

Some children with VCFS have a hearing impairment. The most common is a 

conductive hearing loss caused by fluid in the middle ear (glue ear or serous otitis 

media). Glue ear usually resolves as children get older secondary to growth and an 

improving immune system. Therefore, any hearing loss caused by glue ear is usually 

temporary. However, persistent fluid in the middle ear can reduce a child's hearing at a 

time that is critical for speech and language development. Therefore, if glue ear persists, 

many children will need a grommet (a small ventilation tube) inserted into the eardrum. 

Sensori-neural hearing loss has also been reported in one child at Unique and in the 

published medical literature (Unique). 

• Bones and skeleton 

Abnormalities of the vertebrae of the spine are common in VCFS and may require 

surgery. The most common problem is one of curvature of the spine (scoliosis), but 

abnormalities of the individual vertebrae also are found. Extra ribs, extra fingers and 

toes; differences in wing bones (scapula); and occasionally premature fusion of the 

bones of the skull (craniosynostosis) occur infrequently and can be addressed surgically 

if needed. Some children have tapering fingers. Many children suffer leg pains and 

cramps during the night or on resting from exercise. This can be due to tight ligaments 

in the legs or abnormalities of the foot or ankle joints but in most cases the cause is 

unknown. This can often be treated by muscle stretching exercises and/or orthotic 

insoles in their shoes. Several Unique children have second toes that either stick 

upwards or overlap their third toes (Ryan 1997; Unique). 

• Digestion 

One problem is constipation which affects three quarters of Unique children with VCFS 

and has also been reported in the medical literature. Dietary changes and/or medication 

can help to manage the problem (Ryan 1997; Unique). 

• Teeth 

Generally speaking, children with chromosome disorders appear to have somewhat 

more dental problems than their peers. Dental problems seen at both Unique and in the 

15

medical literature include poor tooth enamel, excess dental cavities and crooked teeth. 

Regular and high quality dental care is recommended (Ryan 1997; Unique). 

• Genital anomalies 

Minor anomalies of the genitals are common in babies with VCFS, most often affecting 

boys. The most common problem is cryptorchidism (undescended testes). The testicles 

can be brought down by a straightforward surgical operation if they do not descend of 

their own accord in time. Hypospadias (where the opening of the penis is not at the 

tip) is also common (Ryan 1997; Unique). 

Much less commonly an absent uterus in girls has been reported (Unique). 

Behaviour 

Social skills are often underdeveloped making it more difficult for children with VCFS to 

make friends. Their small size and unclear speech may contribute to these problems. 

Children are generally more at ease in familiar situations and with people they know 

well. Children with VCFS are often shy, immature, impulsive, overly gullible and suffer 

from mood swings. They can also be particularly „clingy‟ children showing a particular 

attachment to their mother or other care-givers (Vogels 2002; Unique). 

Additionally, affected children are more likely than children without VCFS to 

have attention deficit hyperactivity disorder (ADHD) which is characterised by 

restlessness and a short attention span. Around a third to half of children with 

22q11.2DS are reported to have ADHD. Autistic spectrum disorders have also been 

reported in 14-45 per cent of children and adolescents with VCFS and a full-blown 

autistic disorder was found in five to 11 per cent (Fine 2005; Antshel 2007; Jolin 2009; 

Unique). A diagnosis of autism can be extremely helpful in accessing services and 

tailoring the educational and behavioural therapy to meet the specific needs of a child 

with autism. Although the majority of children with VCFS do not require medication to 

treat behavioural disorders, some reports suggest that ADHD can be treated 

successfully with medication (Gothelf 2003). 

Later in life during adolescence and adult years, people with 22q11.2DS are at an 

increased risk of developing mental health problems such as depression, anxiety, 

obsessive compulsive disorder, schizophrenia and bipolar disorder (Yamagishi and 

Srivastava 2003; Prasad 2008). VCFS is the single most significant genetic risk factor yet 

identified for the development of psychosis. 

Anxiety and depression have been found in adolescents with VCFS suggesting that the 

combination of puberty and increased social pressure puts people with VCFS at an 

increased risk of developing anxiety and depressive disorders (Swillen 1999). 

Obsessive compulsive disorder (OCD) is an anxiety disorder characterized by intrusive 

thoughts that produce anxiety, by repetitive behaviours aimed at reducing anxiety, or 

by a combination of such thoughts (obsessions) and behaviours (compulsions). One 

study of 43 people suggested that around a third had OCD (Gothelf 2004). 

Schizophrenia is a mental health condition that causes a range of different psychological 

symptoms, including hallucinations (hearing or seeing things that do not exist) and 

delusions (believing in things that are untrue). Schizophrenia can be treated using a 

combination of medical treatments such as antipsychotic medicines, and psychological 

16

interventions such as cognitive behavioural therapy (Bassett 2008). 

Bipolar disorder (BPD), previously known as manic-depressive illness, is estimated to 

occur in around one per cent of the general population. It is classically defined by cyclic 

periods of high and low energy where the person‟s mood may become excited, elated 

or irritable. These mood states which can last hours to weeks are usually accompanied 

by an alteration in the sleep-wake cycle, excessive talkativeness, impulsive and 

compulsive behaviours, changes in appetite, and distractibility in thinking. The high 

states (hypomania or mania) are usually followed by periods of depression, marked by a 

sad or irritable mood, low energy, loss of interest in things that ordinarily give pleasure, 

insomnia or sleeping too much, and appetite loss or cravings for sweets and 

carbohydrates. BPD can be treated using a combination of medication and learning to 

recognise what triggers an episode or learning to recognise the signs of an approaching 

episode (Jolin 2009). 

Although the majority of people with VCFS do not develop schizophrenia or BPD, the 

risk for psychiatric illness is 25 times higher for people with VCFS than the general 

population. Therefore, it is recommended that all those with VCFS should be screened 

for predictive symptoms of psychiatric illness to enable early diagnosis and treatment 

(Shprintzen 2008). Treatment of psychosis in VCFS using common psychiatric 

medications often fails, and the use of medications that reduce levels of dopamine in the 

brain has been suggested (Graf 2001; O‟Hanlon 2003). 

He is very happy, loving and sociable – 20 months 

She has a really charming personality. 

Initially she can be shy but if she takes a 

shine to someone then she really takes a 

shine and can be really engaging. She is 

(most of the time) a smiley, happy and 

delightful little girl – 3 years 

He can be very loving. He is shy and 

hyperactive and can be very obsessive. 

He has certain phobias, for example he is 

scared of huge areas and crowds and 

loud voices or noises – 4 years 

She used to be an angry, rageful, 

aggressive kid but now is very loving and 

snugly – medication, therapies and 

growth have helped! She has come a 

long way! She still has some anxiety 

issues – 10 years 

She has no behavioural problems – 8 

years 

He can be very loving and caring at 

times and is usually polite. Getting him 

to go to bed can sometimes be difficult 

– 11 years 

17 

3 years

He generally has no behavioural problems although can be depressed – gets up, bangs 

doors, thumps desk, refuses to get dressed – but can also be lovely – 18 years 

Her behaviour is good but she gets stressed in towns and supermarkets – 20 years 

She has a kind nature and a good sense of humour. She has had mental health 

problems including psychotic depression in her twenties and has ongoing support from 

the mental health team. She has recently had a breakdown and is now responding well 

to specialised treatment in a psychiatric unit – 31 years 

Sleep 

Sleep problems affect many children with VCFS and there are multiple contributing 

factors including anxiety, leg pains, obstructive breathing problems, and a variety of 

psychiatric disturbances. Some children find it hard to settle at bedtime and 

consequently fall asleep late; others continue to have night-wakings throughout 

childhood. 

Puberty 

The evidence in the published medical literature and at Unique suggests that puberty 

generally proceeds as normal at the usual age. 

Adults with VCFS 

There are many adults with VCFS, a number of whom are mildly affected and only 

discovered they had VCFS when their child was diagnosed. However, as in children 

with VCFS there is a wide variation in how adults with VCFS are affected. One clinic in 

the USA has a number of adults in their 70s and at least one in their 80s (Shprintzen 

2008). 

Unique has 19 adult members with 22q11.2DS. An 18-year-old young man obtained a 

number of GCSEs and now attends agricultural college. He has no behavioural 

problems although he can get depressed and has low self-esteem. Another 19-year-old 

young man is active and impulsive and sometimes suffers bouts of depression. 

A 20-year-old girl has 3 A Levels and is currently in her second year at university and is 

an exchange student spending a year in the USA. Her speech was initially delayed but is 

fine now. Her strengths are music, art and textiles and drama. She has a very strong 

sense of justice and loves books, music and theatre. She has a best friend and is also 

very close to her sister. A 21-year-old has grown into a lovely young woman with a 

very full and interesting life. She is at college studying a childcare course and wants to 

be a special needs classroom assistant. A 25-year-old woman obtained a GCSE in art. 

She is good at art, music and English and has a good memory but finds maths difficult – 

she struggles with money and anything to do with numbers. She loves to read 

magazines and novels. She has attended a life-skills course and is now a volunteer at a 

playgroup and lives at home. She goes to an art group once a week and belongs to a 

Ranger Guide unit. She suffers from anxiety, depression and panic attacks. 

A 31-year-old woman has completed a computer course at college and is good at 

pottery and art and enjoys reading magazines. In her late teens, she became depressed 

and suffered mental health problems and low self esteem. She has a good spirit and 

wants to have a social life. She loves watching TV (especially soap operas) and has a 

kind nature and a good sense of humour. She has psychotic depression and takes 

18

anti-psychotic medication (Unique). 

One study of 78 adults with VCFS found that eight per cent had normal intelligence; 

around 50 per cent had borderline normal intelligence; around a third had mild learning 

difficulties and just fewer than eight per cent had moderate learning difficulties (Bassett 

2005). Another study involving19 adults with 22q11.2DS showed that they performed 

less well than their peers on tasks social comprehension and planning, but there were 

no differences on tests of attention, verbal fluency or learning/memory (Henry 2002). 

Another study focussed on those adults who were diagnosed with VCFS after their 

child‟s diagnosis. Of the 19 adults (aged 20-52 years) in this study, two thirds graduated 

high school, almost all the mothers were homemakers, and fathers‟ occupations 

included a maintenance worker, security guard and a milkman (McDonald-McGinn 

2001). 

One of the main areas of study of adults with VCFS has been centred on schizophrenia 

(see Behaviour page 16) (Chow 2006). 

Why are people with VCFS so different from each other 

We don‟t understand this properly yet but a person‟s genes and environment play a 

role. 

Ongoing research involving 22q11.2 

The features of VCFS are likely to be a result of the loss of a number of different genes 

found in this region. Most commonly (in almost 90 per cent) people with VCFS have a 3 

Mb deletion in the region 22q11.2 containing around 30 to 40 genes (Lindsay 1995; 

Carlson 1997; Shaikh 2000). This is often referred to as the typically deleted region 

(TDR). However, a small number of people have a smaller deletion of 1.5 Mb or other 

atypical deletions including around 24 genes (Fernandez 2009). There have been 

attempts to try to correlate the size and region of the 22q11.2 deletion with the 

features of VCFS, but no strong correlation has been found. However, there is a wide 

variation of features, even within families where the same deletion is shared. 

Researchers are taking a multi-faceted approach in order to further understand VCFS 

which includes studies of people with 22q11.2, studies of the potential genes involved 

and studies using mice. Not all of the 30 to 40 genes in the region have been well 

characterised. However, researchers have determined that the loss of a particular gene 

on chromosome 22, TBX1, is probably responsible for many of the syndrome's 

characteristic signs (such as heart defects, a cleft palate, distinctive facial features, 

hearing loss, and low calcium levels). The TBX1 gene provides instructions for making a 

protein called T-box 1. Genes in the T-box family play important roles in the formation 

of tissues and organs during embryonic development. The T-box 1 protein appears to 

be necessary for the normal development of muscles and bones of the face and neck, 

large arteries that carry blood, structures in the ear and glands such as the thymus and 

parathyroid. However, it should be noted that as many as 25-30 per cent of people 

with VCFS and a deletion of TBX1 do not have cardiac problems suggesting that TBX1 

contributes but is not sufficient to the heart problems. Some studies suggest that a 

deletion of this gene may contribute to behavioural problems as well (Prasad 2008; 

Scambler 2010). 

The loss of another gene, COMT, in the same region of chromosome 22 may also help 

19

explain the increased risk of behavioural problems and mental health problems (Prasad 

2008). The COMT gene provides instructions for making an enzyme called catechol-Omethyltransferase 

which is active in the brain and other tissues. Mice who have COMT 

deleted display impaired emotional behaviour. Variations in the COMT gene are among 

many factors under study to help explain the causes of schizophrenia and other 

behavioural problems seen in VCFS. A large number of genetic and lifestyle factors, 

most of which remain unknown are also likely determine the risk of developing these 

conditions. However, COMT is also thought to interact with sex hormones (for 

example oestrogen) which may contribute to the onset of psychiatric disorders in 

VCFS during adolescence and young adulthood (Gogos 1998; Gothelf 2005). 

PRODH might also be involved in the behavioural and psychiatric problems seen in 

22q11.2DS. Mice with Prodh missing have a problem with attention focussing (Gogos 

1999). 

Genes: 

Features: 

DGCR6 

PRODH 

IDD 

TSK1/2 

ES2 

GSCL 

CTP 

HIRA 

NLVCF 

UFD1L 

CDC45L 

TMVCF 

CDcrel1 

GP1BB 

TBX1 

GNBIL 

TRXR2 

COMT 

ARVCF 

DGCR8 

RANBP1 

ZDHHC8 

Behavioural problems 

Mental health problems 

Heart defects 

Cleft palate 

Hearing loss 

Low calcium levels 

Schizophrenia 


Mental health problems 


Schizophrenia 

20

Other potential genes involved in VCFS include DGCR8, ZDHHC8 and GNB1L. 

Mice missing Dgcr8 have behavioural deficits similar to those seen in VCFS (Stark 2008); 

while ZDHHC8 and GNB1L have both been linked to schizophrenia in (Liu 2002; Paylor 

2006). Additional genes in the deleted region likely to contribute to the varied features 

of VCFS. 

It is important to remember that while identifying the gene(s) responsible for certain 

features of VCFS is interesting and may help guide future studies, it does not lead 

directly to immediate improved treatment. Additionally, even if the supposedly 

responsible gene is missing it does not always mean that the associated feature(s) will 

be present. Other genetic and environmental factors often have a role in determining 

the presence or absence of a particular feature. 

Why did this happen 

A blood test to check both parents‟ chromosomes is needed to find out why the 

22q11.2 deletion occurred. In the vast majority of cases (more than 90 per cent) the 

22q11.2 deletion occurred when both parents have normal chromosomes. The term 

that geneticists use for this is de novo (dn) which means „new‟. De novo 22q11.2 

deletions are caused by a change that occurred when the parents‟ sperm or egg cells 

formed or possibly during formation and copying of the early cells after the egg and 

sperm joined (Bassett 2008). 

In the other approximately 10 per cent of cases, one of the parents has VCFS and has 

passed it on to their child. Because the physical findings associated with VCFS can be 

subtle and vary from person to person, even within a family, often a parent does not 

know they have the syndrome until their child is diagnosed. A small minority of 22q11.2 

deletions are accompanied by a gain of material from another chromosome and are 

often the result of a rearrangement in one parent‟s chromosomes. This is usually a 

rearrangement known as a balanced translocation in which material has swapped places 

between chromosomes. As no genetically important material has been lost or gained, 

the parent usually has no clinical or developmental problems, although they may have 

difficulties with fertility or childbearing. Balanced translocations involving one or more 

chromosomes are not rare: one person in 500 has one, making a total world population 

of over 13 million balanced translocation carriers. 

Whether the deletion is inherited or de novo, what is certain is that as a parent there is 

nothing you did to cause the 22q11.2 deletion and nothing you could have done would 

have prevented it from occurring in your baby. No environmental, dietary or lifestyle 

factors are known to cause these chromosome changes. No one is to blame when this 

occurs and nobody is at fault. 

21

Can it happen again 

The possibility of having another pregnancy with VCFS depends on the parents‟ 

chromosomes. If both parents have normal chromosomes when their blood cells are 

tested, the deletion is very unlikely to happen again. However, there is a very small 

possibility that the deletion occurred during the formation of the egg or sperm cells in 

a parent. When this occurs there is a tiny chance that parents with apparently normal 

chromosomes could have another affected pregnancy. However, if either parent has a 

chromosome rearrangement or deletion involving 22q11.2, the possibility is greatly 

increased of having other affected pregnancies. 

Parents should have the opportunity to meet a genetic counsellor to discuss their 

specific recurrence risks and options for prenatal and preimplantation genetic diagnosis 

(PGD). PGD requires the use of in vitro fertilisation and embryo biopsy, and only 

healthy embryos are transferred to the mother‟s uterus. If the parents choose to 

conceive naturally, prenatal diagnosis options include chorionic villus sampling (CVS) 

and amniocentesis to test the baby‟s chromosomes. Testing is generally very accurate, 

although not all of these tests are available in all parts of the world. Scans of the 

developing baby‟s heart (fetal echocardiograms) may also be helpful in monitoring a 

pregnancy with an increased risk of VCFS. 

If one person in a family with VCFS is mildly affected, will others in 

the same family also be mildly affected 

Not necessarily. There is a lot of variation between different members of the same 

family. We know that if one person is mildly affected, others may be more severely and 

obviously affected. 

Will my child with VCFS have similarly affected children 

Your child with VCFS may well want to have children. It is thought that people with the 

syndrome have normal fertility. In each pregnancy, someone with the deletion has a 50 

per cent risk of passing it on and a 50 per cent chance of having a child without the 

deletion. Prenatal diagnosis is available to determine if a pregnancy is affected (see 

above). Their ability to look after a child is very likely to be closely related to their own 

learning ability. 

22

A star in a Christmas nativity play 

What families say............... 

These kids have sunny, chirpy personalities, they are charming, engaging, warm and 

they can laugh a lot and know how to enjoy themselves! 

He is very happy, loving and sociable 

She tries everything in an attempt to prove doubters wrong 

She is happy and healthy 

She is very special 

He has given us a sense of what is important - we don‟t stress the small stuff 

anymore. He has taught us so much. 

23

Support and information 

Velo-Cardio-Facial Syndrome Educational Foundation, Inc. 

www.vcfsef.org 

Max Appeal 

Supporting families affected by DiGeorge syndrome, VCFS and 22q11.2 

deletion 

www.maxappeal.org.uk 

22Crew 

Funding research and providing social, educational and medical support for 

all those affected by 22q Deletion Syndrome 

www.22crew.org 

In the UK, the NHS has produced a personal health record specifically for those affected by 

22q11.2DS. The UK also has several specialist multidisciplinary clinics for people with 

22q11.2DS . Your clinical geneticist can advise if there is a clinic in your region 

Rare Chromosome Disorder Support Group, 

PO Box 2189, 

Caterham, 

Surrey CR3 5GN, 

UK 

Tel/Fax: +44(0)1883 330766 

info@rarechromo.org 

www.rarechromo.org 

Unique lists other organisations websites to help families looking for information. 

This does not imply that we endorse their content or have responsibility for it. 

This leaflet is not a substitute for personal medical advice. Families should consult a 

medically qualified clinician in all matters relating to genetic diagnosis, management 

and health. The information is believed to be the best available at the time of 

publication. It was compiled by Unique and reviewed by Dr. Robert J. Shprintzen, 

Velo-Cardio-Facial Syndrome International Center, Upstate Medical University, 

USA, Dr Helen V Firth, Addenbrookes Hospital, UK and by Professor Maj Hultén 

BSc PhD MD FRCPath, Professor of Reproductive Genetics, University of 

Warwick, UK 2011. (SW) 

Copyright © Unique 2011 

Rare Chromosome Disorder Support Group Charity Number 1110661 

Registered in England and Wales Company Number 5460413 

24

22q11.2 deletions syndrome (Velo-Cardio-Facial Syndrome) FTNW

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