ODCs

Click node...

1 OMIM reference -
1 associated gene
15 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
9 signs/symptoms

Fibular aplasia - complex brachydactyly

Angel-shaped phalango-epiphyseal dysplasia

GDF5

Citations in the biomedical literature:

Fibular aplasia - complex brachydactyly		Angel-shaped phalango-epiphyseal dysplasia
	Synonym(s): - Du Pan syndrome		Synonym(s): - ASPED

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Epiphyseal anomaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Short stature / dwarfism / nanism

Fibular aplasia - complex brachydactyly		Angel-shaped phalango-epiphyseal dysplasia
	Very frequent - Autosomal recessive inheritance - Carpal bones fusion / synostosis - Narrow nasal bridge - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Simian crease / transverse / unique palmar crease - Tarsal anomaly / fusion / synostosis - Thumb anomalies (excluding hypoplasia) - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray		Very frequent - Autosomal dominant inheritance Frequent - Anomalies of teeth and dentition - Arthritis / synovitis / synovial proliferation - Delayed dentition / eruption of teeth / lack of eruption of teeth Occasional - Delayed bone age - Hyperextensible joints / articular hyperlaxity