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Start free with Eleplan22q11.2 deletion syndrome
ORPHA:567Malformation syndrome
Also called 22q11DS · CATCH 22 · Cayler cardiofacial syndrome · Conotruncal anomaly face syndrome · DiGeorge sequence · DiGeorge syndrome · Microdeletion 22q11.2 · Monosomy 22q11 · Sedlackova syndrome · Shprintzen syndrome · Takao syndrome · Velocardiofacial syndrome
What it is
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
Key facts
- Prevalence
- 1-5 / 10 000 (Europe)
- Age of onset
- All ages
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
24- Abnormal aortic arch morphology
- Abnormal cardiovascular system morphology
- Abnormal facial shape
- Abnormality of the pharynx
- Abnormal pulmonary valve morphology
- Aphasia
- Atrial septal defect
- Bulbous nose
- Cleft palate
- Conductive hearing impairment
- Epicanthus
- Hypernasal speech
- Hypoplasia of the thymus
- Hypotonia
- Immunodeficiency
- Low-set ears
- Platybasia
- Prominent nasal bridge
- Telecanthus
- Tetralogy of Fallot
- Truncus arteriosus
- Upslanted palpebral fissure
- Ventricular septal defect
- Wide nasal bridge
Common30–79%
35- Abnormal eyelid morphology
- Abnormality of T cell physiology
- Abnormality of the dentition
- Abnormality of the tonsils
- Abnormal skull morphology
- Acne
- Anorectal anomaly
- Anxiety
- Arachnodactyly
- Attention deficit hyperactivity disorder
- Carious teeth
- Chronic otitis media
- Constipation
- Corneal neovascularization
- Global developmental delay
- Hearing impairment
- Hypocalcemia
- Hypoparathyroidism
- Intellectual disability, mild
- Long face
- Long philtrum
- Malar flattening
- Meningocele
- Myalgia
- Overfolded helix
- Posterior embryotoxon
- Ptosis
- Renal hypoplasia
- Scoliosis
- Seborrheic dermatitis
- Short neck
- Short stature
- Small earlobe
- Specific learning disability
- Tetany
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
3 modifying genes — variants that can change how the disease behaves, not cause it
ICD-10 codes
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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