ODCs

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1 OMIM reference -
1 associated gene
9 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

3 OMIM references -
2 associated genes
13 signs/symptoms

Angel-shaped phalango-epiphyseal dysplasia

Brachydactyly type A1

GDF5	(UniProt - OMIM)		GDF5	(UniProt - OMIM)
			IHH	(UniProt - OMIM)

Citations in the biomedical literature:

Angel-shaped phalango-epiphyseal dysplasia		Brachydactyly type A1
	Synonym(s): - ASPED		Synonym(s): - Brachydactyly, Farabee type

	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

	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: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C537088


COMMON SIGNS	- Autosomal dominant inheritance - Short stature / dwarfism / nanism

Angel-shaped phalango-epiphyseal dysplasia		Brachydactyly type A1
	Very frequent - Epiphyseal anomaly Frequent - Anomalies of teeth and dentition - Arthritis / synovitis / synovial proliferation - Delayed dentition / eruption of teeth / lack of eruption of teeth - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana Occasional - Delayed bone age - Hyperextensible joints / articular hyperlaxity		Very frequent - Short big toe - Short foot / brachydactyly of toes - Short hand / brachydactyly - Thumb hypoplasia / aplasia / absence Frequent - Cone epiphyses / epiphysis Occasional - Clinodactyly of fifth finger - Metacarpal anomalies / Archibald's sign - Scoliosis - Symphalangy of fingers - Talipes-varus / metatarsal varus - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray