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22q11.2 deletion syndrome
2 OMIM references -
6 associated genes
64 connected diseases
98 signs/symptoms
Disease Type of connection
Bernard-Soulier syndrome
Fetal and neonatal alloimmune thrombocytopenia
22q11.2 microduplication syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Giant cell glioblastoma
Gliosarcoma
Split hand-split foot malformation
Autosomal dominant nonsyndromic intellectual deficit
Fatal infantile encephalopathy-pulmonary hypertension syndrome
Fatal multiple mitochondrial dysfunction syndrome
Fibronectin glomerulopathy
Chronic granulomatous disease
Acute promyelocytic leukemia
Alveolar rhabdomyosarcoma
17q11 microdeletion syndrome
Adrenocortical carcinoma
Alveolar soft-part sarcoma
Autosomal agammaglobulinemia
Autosomal recessive spastic paraplegia type 18
B-cell chronic lymphocytic leukemia
Berardinelli-Seip congenital lipodystrophy
Burkitt lymphoma
CLOVE syndrome
Charcot-Marie-Tooth disease type 1C
Choroideremia
Congenital factor XIII deficiency
Cowden syndrome
Craniofacial-ulnar-renal syndrome
Diffuse cutaneous systemic sclerosis
Essential thrombocythemia
Familial pancreatic carcinoma
Hemimegalencephaly
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary nonpolyposis colon cancer
Heritable pulmonary arterial hypertension
Hypohidrotic ectodermal dysplasia with immunodeficiency
Juvenile primary lateral sclerosis
Li-Fraumeni syndrome
Limited cutaneous systemic sclerosis
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Recessive intellectual disability - motor dysfunction - multiple joint contractures
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
Translocation renal cell carcinoma
Weaver syndrome
Young adult-onset Parkinsonism
Familial gastric cancer
Gastric linitis plastica
Von Willebrand disease, platelet type
Renal tubular dysgenesis of genetic origin
Angelman syndrome
Arthrogryposis - renal dysfunction - cholestasis
Synonym(s):
- 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
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare immune disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare renal disease
- Rare surgical cardiac disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
External references:
2 OMIM references -
No MeSH references
Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Anomaly of the pharynx / pharyngeal anomaly
- Aortic arches anomalies
- Atrial septal defect / interauricular communication
- Autosomal dominant inheritance
- Cleft lip and palate
- Common arterial trunk / truncal valve
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- Facial dysmorphism
- High nasal bridge
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Long / large / bulbous nose
- Low set ears / posteriorly rotated ears
- Pulmonary valve atresia / stenosis / narrowing
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Telecanthus / canthal dystopy
- Tetralogy of Fallot / trilogy of Fallot
- Thymic aplasia / hypoplasia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Ventricular septal defect / interventricular communication

Frequent
- Acne / acnea
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Chronic / relapsing otitis
- Constipation
- Flat cheek bones / malar hypoplasia
- Folded helix
- Hearing loss / hypoacusia / deafness
- Hyperactivity / attention deficit
- Hypocalcemia
- Hypoparathyroidy
- Long face
- Multiple caries
- Ptosis
- Renal / kidney anomalies
- Seborrhea / hyperseborrhea / seborrheic dermatitis
- Short neck
- Small / hypoplastic / adherent / absent ear lobe

Occasional
- Acute arterial hypertension / hypertensive crisis
- Agenesis / hypoplasia / aplasia of kidneys
- Anomalies of chest / thorax / trunk
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Arthritis / synovitis / synovial proliferation
- Asthma / bronchospasm
- Atelectasia / pulmonary collapse
- Autism / autistic disoders
- Autoimmunity / autoimmune reaction / autoantibodies
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Cataract / lens opacification
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Craniostenosis / craniosynostosis / sutural synostosis
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Early death / lethality
- Enamel anomaly
- Encopresis / fecal incontinence
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypertelorism
- Hyperthyroidy
- Hypospadias / epispadias / bent penis
- Hypothyroidy
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intestinal / gut / bowel malrotation
- Intrauterine growth retardation
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Multicystic kidney / renal dysplasia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Patella dislocation
- Patent ductus arteriosus
- Platelet disorders / thrombopathies
- Polycystic kidneys
- Polydactyly of toes
- Psychic / behavioural troubles
- Psychosis / schizophrenia / maniac disorder
- Purpura / petichiae
- Seizures / epilepsy / absences / spasms / status epilepticus
- Spina bifida
- Splenomegaly
- Stillbirth / neonatal death
- Strabismus / squint
- Thrombocytopenia / thrombopenia
- tricuspid valve atresia / stenosis / narrowing
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Upper limb polydactyly / hexadactyly
- Uterine / uterus / Fallopian tubes anomalies
- Varices / varicous veins / venous insufficiency
- Vesicorenal / vesicoureteral reflux