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20p12.3 microdeletion syndrome

1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Keutel syndrome

1 OMIM reference -
1 associated gene
26 signs/symptoms

20p12.3 microdeletion syndrome

Keutel syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMP2	(0.73)	MGP

Citations in the biomedical literature:

20p12.3 microdeletion syndrome		Keutel syndrome
	Synonym(s): - Del(20)(p12.3) - Monosomy 20p12.3		Synonym(s): - Pulmonic stenosis - brachytelephalangism - calcification of cartilages

	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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536167


COMMON SIGNS	- Broad nose / nasal bridge - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism

20p12.3 microdeletion syndrome		Keutel syndrome
	Very frequent - Hypertelorism - Insterstitial / subtelomeric microdeletion / deletion Frequent - 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 Occasional - Atrial septal defect / interauricular communication - Broad cheeks / cherub-like / cherubin face - Broad nasal root - 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		Very frequent - Autosomal recessive inheritance - Calcification of cartilages / intraarticular calcification - Depressed nasal bridge - Long face - Mid-facial hypoplasia / short / small midface - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Terminal / third phalangeal bone of fingers hypoplasia - Tracheal atresia / stenosis Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Chronic / relapsing otitis - Hearing loss / hypoacusia / deafness - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Periarticular tissue anomaly / extraarticular calcifications - Pulmonary hypertension - Repeat respiratory infections - Sloping forehead - Thin / hypoplastic ala nasi - Ventricular septal defect / interventricular communication Occasional - Alopecia - Loose skin / skin relaxation / excess skin / creases - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Skin hypoplasia / aplasia / atrophy