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Distal 22q11.2 microdeletion syndrome
1 OMIM reference -
3 associated genes
60 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 18
2q37 microdeletion syndrome
1 OMIM reference -
1 associated gene
52 signs/symptoms
Distal 22q11.2 microdeletion syndrome
2q37 microdeletion syndrome

BCR
(UniProt - OMIM)
 HDAC4
(UniProt - OMIM)
CRKL
(UniProt - OMIM)
MAPK1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MAPK1
(0.77)
HDAC4


Citations in the biomedical literature:


Distal 22q11.2 microdeletion syndrome
BCR CRKL MAPK1
2q37 microdeletion syndrome
HDAC4



Distal 22q11.2 microdeletion syndrome
2q37 microdeletion syndrome

Synonym(s):
- Distal del(22)(q11.2)
- Distal monosomy 22q11.2
Synonym(s):
- Albright hereditary osteodystrophy 3
- Albright hereditary osteodystrophy-like syndrome
- Brachydactyly-intellectual deficit
- Del(2)(q37)
- Deletion 2q37
- Deletion 2q37-qter
- Monosomy 2q37-qter
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538317
COMMON
SIGNS 		- Clinodactyly of fifth finger
- Deepset eyes / enophthalmos
- Gastric / pyloric stenosis
- High arched eyebrows
- High vaulted / narrow palate
- Hyperactivity / attention deficit
- Hyperextensible joints / articular hyperlaxity
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Obsessive-compulsive disorder
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Syndactyly of toes
- Thin / hypoplastic ala nasi
- Thin / retracted lips
- Tics / stereotypias

Distal 22q11.2 microdeletion syndrome
2q37 microdeletion syndrome

Very frequent
- Philtrum flat / large / featureless / absent cupidon bows
- Prematurity
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Common arterial trunk / truncal valve
- External ear anomalies
- Flat foot
- Intrauterine growth retardation
- Pointed chin

Occasional
- Ankyloglossia / lingual synechiae
- Aortic root dilatation / dilation / aneurysm
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Bowed diaphysis / diaphyses / long bones
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Camptodactyly of some fingers
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Encopresis / fecal incontinence
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flat cheek bones / malar hypoplasia
- High nasal bridge
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Inguinal / inguinoscrotal / crural hernia
- Long face
- Long hand / arachnodactyly
- Lordosis
- Microstomia / little mouth
- Oculomotor apraxia / dyspraxia
- Recurrent urinary infections
- Repeat respiratory infections
- Sensorineural deafness / hearing loss
- Terminal / third phalangeal bone of fingers hypoplasia
- Ulnar deviation of fingers
- Ventricular septal defect / interventricular communication
- Wide space between 1st-2nd toes


Very frequent
- Hypotonia
- Mid-facial hypoplasia / short / small midface
- Round face

Frequent
- Abnormally placed nipples
- Absent / decreased / thin eyebrows
- Anteverted nares / nostrils
- Congenital cardiac anomaly / malformation / cardiopathy
- Depressed nasal bridge
- Downturned mouth
- Eczema
- Frontal bossing / prominent forehead
- Generalized obesity
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Metacarpal anomalies / Archibald's sign
- Psychic / behavioural troubles
- Simian crease / transverse / unique palmar crease
- Small foot
- Small hand / acromicria
- Supernumerary nipples / polythelia
- Syndactyly of fingers / interdigital palm
- Thick columella
- Umbilical hernia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Autism / autistic disoders
- Conductive deafness / hearing loss
- Diaphragmatic hernia / defect / agenesis
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Laryngomalacia
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Multicystic kidney / renal dysplasia
- Nephroblastoma / Wilms tumor
- Short neck
- Sleep and vigilance disorders
- Tracheomalacia / tracheobronchomalacia