22q Q and A
Frequently Asked Questions about the 22q11.2 Deletion Disorder

22q Q and A

What is 22q11.2 Deletion Disorder?

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.

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.

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.)

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…

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." This book is a more detailed discussion of the topic as covered in "Missing Genetic Pieces" in 2004.

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.

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.

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!

Will my child ever marry and have children?

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.

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” 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

Downloadable 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

Hypoplastic/aplastic kidney 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 atresi

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