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Brachydactyly type A2

1 OMIM reference -
3 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Keutel syndrome

1 OMIM reference -
1 associated gene
26 signs/symptoms

Brachydactyly type A2

Keutel syndrome

BMP2	(UniProt - OMIM)		MGP	(UniProt - OMIM)
BMPR1B	(UniProt - OMIM)
GDF5	(UniProt - OMIM)


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

Citations in the biomedical literature:

Brachydactyly type A2		Keutel syndrome
	Synonym(s): - Brachydactyly, Mohr-Wriedt type		Synonym(s): - Pulmonic stenosis - brachytelephalangism - calcification of cartilages

	Classification (Orphanet): - Rare bone disease - 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: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537089		External references: 1 OMIM reference - 1 MeSH reference: C536167


COMMON SIGNS	- Terminal / third phalangeal bone of fingers hypoplasia

Brachydactyly type A2		Keutel syndrome
	Very frequent - Autosomal dominant inheritance - Short hand / brachydactyly Frequent - Clinodactyly of fifth finger - Short foot / brachydactyly of toes Occasional - Metacarpal anomalies / Archibald's sign		Very frequent - Autosomal recessive inheritance - Broad nose / nasal bridge - 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 - Tracheal atresia / stenosis Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Chronic / relapsing otitis - Hearing loss / hypoacusia / deafness - Intellectual deficit / mental / psychomotor retardation / learning disability - 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 - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Skin hypoplasia / aplasia / atrophy