22q Central–Frequently Asked Questions About 22q11

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22q Questions & Answers

What is 22q11? What is the FISH test? How many smptoms of 22q11 are there? These are a few of the most commonly asked questions about 22q11.2 Deletion Disorder (also commonly known as VCFS or DiGeorge Syndrome.) There are many more. We welcome your questions and thoughts about 22q11. Please contact us!

1. What is 22q11?

It is a genetic disorder that is the result of missing DNA from one of the two chromosomes we have inherited from our parents. This can be either inherited from one or both parents, or a mutation where there is no known cause.

2. What is the FISH test?

22q11 was thought to be a rare disorder before the blood test called FISH (Fluorescence In Situ Hybridization) was available. Now it is said to occur in 1:2000 births. In the days before the FISH test, it was more difficult for a doctor to prove that the collection of recurring symptoms in a patient was a syndrome caused by 22q11 deletion. Today, a FISH test can be ordered to confirm this diagnosis. The problem we face now is that too many doctors lack awareness of 22q and the FISH testing that is available to them. This is continuing to cause the misdiagnosis of these symptoms as individual illnesses instead of parts of a syndrome.

3. How many symptoms are there?

The count seems to change all the time. But at present there are approximately 189. Will everyone have them all? No, it is varied in each person. As an example: my son had 28 of the possible 189 symptoms. Some will have more, some will have less and none will be affected in the same way. It reminds me of a “mix and match”. This is no doubt one of the reasons why it is so hard for physicians to see that what they are observing all goes together, and is in fact a syndrome. (See symptom list below.)

4. What symptoms do I need to be most concerned about?

Aside from the obvious medical issues, you will need to be prepared for the possibilities of feeding difficulties, developmental issues, emotional/anxiety issues, psychiatric/behavioral issues, learning disabilities, non-verbal learning disorders, auditory processing disorders, speech and language difficulties and others. Here is where you need to get all your “ducks in a row.” Even if your child does not develope these issues, you need to be prepared. Ask yourself: who will I go to, what questions will I need answered, etc…

5. What if I think my child has a learning problem BEFORE starting school?

Contact your local Department of Education, who will direct you to your local school district. They in turn will guide you to where your child can get evaluated (as early as 3 yrs of age). Remember your child has the RIGHT to learn. Here in the USA we have what is called IDEA
(Individuals with Disabilities Education Act) which provides us with the power to demand that our child gets whatever is needed to learn in school (but be prepared for a battle in some areas, as funds are slim in many school districts.) When your child gets evaluated and if it is confirmed they do need special attention, there will be a IEP
(Individualized Education Plan) made for them. Please refer to the book written by Donna Cutler-Landsman, “Educating Children With Velo-Cardio-Facial Syndrome.” The book is a more detailed discussion of the topic she wrote for me in "Missing Genetic Pieces" in 2004.

6. Is there any support for those living with 22q11?

Not long ago there wasn't a lot of support, but this is changing. This site is here for that purpose and listed under reference in the directory, you will find an abundance of sites and people ready to give you support and information that will help you write out a life’s care plan for your child.

7. Will my child be able to get a driver’s license?

This of course depends on your child’s abilities at the time. Many 22q young adults do drive (my son does) but many do not have the ability to do so. This can only be determined as the child gets closer to the age of learning to drive. You will know by their level of common sense, motor skills, and sense of direction.

8. Will my child ever live on his or her own?

This is another area where you will need to know your child's abilities. Are they organized enough to know how to run their life and manage their money? Can they keep their house clean? Can they make a menu, go grocery shopping, cook, and use all major appliances with ease? These are things you'll need to determine as they get into puberty and close to adulthood. Make a list of all that is involved with living on your own and see if the child comes close to having those skills as they get close to 18 and up. If not, then these are areas wher you need to try and teach them to prepare for the best outcome! There are also alternatives to committing to independent living which we will talk about in forum. For example, when my son was about 21, I spoke with the managers of an apartment complex that had furnished studio apartments for rent. I told them that my son was disabled and that I wanted to see if he could live on his own. They agreed for me to pay three months in advance to see if he could manage living on his own. Well, it didn’t turn out the best, but it was a good experience for both of us. There were many attempts before he was finally able to live independently. We have learned that even at age 30, he cannot be responsible for paying his bills or any money matters. So we have a separate account and we are the payee. This has worked out well, especially with a roommate (more on this topic in our forum.)

9. Will my child ever marry and have children?

This is one of the HOT topics we will discuss on the forum. Like anything else with this syndrome, the answer can be YES and it can be NO. Things to consider are their social skills for meeting someone that understands the disorder, whether they are able to function borderline (IQ) to live independently and whether they SHOULD have children.

10. How can I help promote 22q11/VCFS awareness?

Our goals are to have 22q become a household name so that no one says, “What is that, I’ve never heard of it!" AND to have OB/GYNs request that newborns be screened for it at birth. To accomplish these goals, we each need to carry literature that explains the subject. This can be a flyer you have personally made up, a brochure from one of the organizations in the directory, or a book on the topic. We also need to be prepared to talk about it when we have the chance. One item that has helped start many conversations about 22q is our new “22q Awareness Lapel Pin” We encourage you to share on the forum your experiences where the pin has worked as a conversation piece. The key is, networking and talking, talking , sharing and talking some more. So let's get the pins and literature out there! Our efforts will result in recognition and appropriate treatment for this disorder.

Most Affected Systems

Cardio-vascular	Cleft palate
Delayed neurological and psychological developments	Learning Disabilities
Feeding difficulties	Speech problems
Immunization problems	Skeletal abnormalities

Anomaly Fact Sheet of 22q11 Symptoms
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Abdominal/kidney/gut

Hypoplastic/aplastic kidney
Cystic kidneys
Anal anomalies (displaced, imperforate)
Inguinal hernias
Umbilical hernias
Single case of malrotation of the bowel
Hepatoblastoma and diaphragmatic hernia (rare)
Diastasis recti abdominis

Cardiac findings

VSD (ventricular septal defect)
ASD (atrial septal defect)
Pulmonary atresia or stenosis
Tetralogy of Fallot
Right-sided aorta
Truncus arteriosus
PDA (patent ductus arteriosus)
Interrupted aorta
Coarctation of the aorta
Aortic valve anomalies
Aberrant subclavian arteries
Vascular ring
Anomalous origin of carotid artery
Transposition of the great vessels
Tricuspid atresia

Cognitive/learning

Learning disabilities (math concept, reading comprehension)
Concrete thinking, difficulty with abstract thinking
Drop in IQ scores in school years (test artifact)
Borderline normal intellect (based on 100% as “normal”)
Occasional mild mental retardation
Attention deficit hyperactivity disorder (ADD/ADHD)

Craniofacial/oral findings

Overt, submucous or occult submucous cleft palate
Retrognathia (retruded lower jaw)
Platybasia (flat skull base)
Asymmetric crying facies in infancy
Structurally and/or functionally asymmetric face
Straight facial profile
Cleft lip (uncommon)
Enamel hypoplasia on teeth (primary dentition)
Small teeth
Congenitally missing teeth
Hypotonic, flaccid facies
Downturned oral commissures
Microcephaly (small head)
Small posterior cranial fossa
Vertical maxillary excess (long face)
Tortuous retinal vessel
Suborbital congestion “allergic shiners”
Strabismus
Narrow palpebral fissures
Posterior embryotoxin
Prominent corneal nerves
Cataract
Iris nodules
Iris coloboma (uncommon)
Retinal coloboma (uncommon)
Small eyes
Mild orbital hypertelorism
Mild orbital dystopia
Puffy eyelids

Ear/hearing findings

Over-folded helix
Attached lobules
Protuberant, cup-shaped ears
Small ears
Mild asymmetric ears
Frequent otitis media
Mild conductive hearing loss
Sensorineural hearing loss
Ear tags or pits (uncommon)
Narrow external ear canals

Endocrine

Hypocalcaemia
Hypoparathyroidism
Pseudo-hypoparathyroidism
Hypothyroidism
Mild growth deficiency, relative small stature
Absent, hypoplastic thymus
Poor body temperature regulation

Genito-urinary

Hypospadias
G-U reflux
Cryptorchidism

Immunologic

Reduced T cell populations
Frequent lower airway disease (pneumonia, bronchitis)
Frequent upper respiratory infections
Reduced thymic hormone

Limb findings

Small hands and feet
Tapered digits
Short nails
Contractures
Triphalangeal thumbs
Soft tissue syndactyly
Rough, red, scaly skin on hands
Morphea
Polydactyly (both preaxial and postaxial)

Nasal findings

Prominent nasal bridge
Bulbous nasal tip
Mildly separated nasal domes
Pinched alar base, narrow nostrils
Narrow nasal passages

Neurological/brain findings

Periventricular cysts (mostly anterior horns)
Small cerebellar vermis
Cerebellar hypoplasia/dysgenesis
White matter UBO’s (unidentified bright objects)
Cerebellar ataxia
Seizures
Strokes
Spina bifida/meningomyelocele
Mild developmental delay
Generalized hypotonia

Pharyngeal/laryngeal airway

Upper airway obstruction in infancy
Absent or small adenoids
Laryngeal web (anterior)
Large pharyngeal airway
Laryngomalacia
Arytenoid hypoplasia
Pharyngeal hypotonia
Asymmetrical pharyngeal movement
Thin pharyngeal muscle
Unilateral vocal cord paresis
Reactive airway disease
Spontaneous oxygen desaturation without apnea

Problems in infancy

Difficulty in feeding, failure to thrive
Nasal vomiting
Gastro-esophageal reflux
Nasal regurgitation
Irritability
Chronic constipation (not Hirshprung megacolon)

Psychiatric/psychological

Bipolar affective disorder
Manic depressive illness and psychosis
Rapid or ultra-rapid cycling of mood disorder
Mood disorder
Depression
Hypomania
Generalized anxiety disorder
Schizoaffective disorder
Impulsiveness
Flat affect
Dysthymia
Cyclomania
Social immaturity
Obsessive compulsive disorder
Phobias
Exaggerated startle response

Skeletal/muscle/orthopedic/spine

Scoliosis
Hemivertebrae
Spina bifida oculta
Butterfly vertebrae
Fused vertebrae (mostly cervical)
Tethered spinal cord
Syrinx
Sprengel’s anomaly/scapular deformation
Small skeletal muscles
Joint dislocations
Chronic leg pains
Flat foot arches
Hyperextensible/lax joints
Extra ribs
Rib fusion
Talipes equinovarus (club feet)
Osteopaenia
Juvenile rheumatoid arthritis (JRA)

Skin/integument

Abundant scalp hair
Thin appearing skin (venous patterns easily visible)
Roscea

Speech/language

Severe hypernasality
Severe articulation impairment
Language impairment (usually mild delay)
Dyspraxia
Velopharyngeal insufficiency (VPI) (usually severe)
High-pitched voice
Hoarseness

Vascular anomalies

Medially displaced internal carotid artery
Tortuous, kinked, absent or accessory internal carotids
Jugular vein anomalies
Small veins
Circle of Willis anomalies
Absence of vertebral artery (unilateral)
Low bifurcation of common carotid
Tortuous or kinked vertebral arteries
Raynaud’s phenomenon
Thrombocytopenia, Bernard-Soulier disease

Why we're here

Sherry Baker Gomez
Founder and Author of “Missing Genetic Pieces–Strategies For Living With VCFS”

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