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20p12.3 microdeletion syndrome
1 associated gene
44 connected diseases
24 signs/symptoms
Disease Type of connection
Brachydactyly type A2
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Brachydactyly type C
Hereditary nonpolyposis colon cancer
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Juvenile polyposis of infancy
Pulmonary venoocclusive disease
Brachydactyly type B2
Multiple synostoses syndrome
Proximal symphalangism
Stapes ankylosis with broad thumbs and toes
Tarsal-carpal coalition syndrome
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Familial avascular necrosis of femoral head
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Familial cerebral saccular aneurysm
Hereditary hemorrhagic telangiectasia
Keutel syndrome
Camurati-Engelmann disease
Cystic fibrosis
Familial thoracic aortic aneurysm and aortic dissection
Fibrodysplasia ossificans progressiva
Haddad syndrome
Ondine syndrome
Peters anomaly
Situs ambiguus
- Del(20)(p12.3)
- Monosomy 20p12.3

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
BMP2 P12643112261
Very frequent
- Hypertelorism
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability

- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epicanthic folds
- Flat cheek bones / malar hypoplasia
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Microstomia / little mouth
- Short stature / dwarfism / nanism

- Atrial septal defect / interauricular communication
- Broad cheeks / cherub-like / cherubin face
- Broad nasal root
- Broad nose / nasal bridge
- Broad / bifid big toe
- Broad / bifid thumb
- Dilated cerebral ventricles without hydrocephaly
- Helix thickened / sculpted
- Hypotonia
- Long philtrum
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Pectus carinatum
- Seizures / epilepsy / absences / spasms / status epilepticus