ODCs

Click node...

2 OMIM references -
2 associated genes
15 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
15 signs/symptoms

Proximal symphalangism

Fibular aplasia - complex brachydactyly

GDF5	(UniProt - OMIM)		GDF5	(UniProt - OMIM)
NOG	(UniProt - OMIM)

Citations in the biomedical literature:

Proximal symphalangism		Fibular aplasia - complex brachydactyly
	Synonym(s): - Symphalangism, Cushing type		Synonym(s): - Du Pan syndrome

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

	External references: 2 OMIM references - 1 MeSH reference: C536223		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Carpal bones fusion / synostosis - Short hand / brachydactyly - Tarsal anomaly / fusion / synostosis

Proximal symphalangism		Fibular aplasia - complex brachydactyly
	Very frequent - Autosomal dominant inheritance - Camptodactyly of some fingers - Symphalangy of fingers Frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Elbow dislocation - Humeroradial fusion - Metacarpal anomalies / Archibald's sign - Sensorineural deafness / hearing loss Occasional - Clinodactyly of fifth finger - Strabismus / squint - Syndactyly of fingers / interdigital palm - Wrist / carpal anomalies		Very frequent - Autosomal recessive inheritance - Epiphyseal anomaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Narrow nasal bridge - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Simian crease / transverse / unique palmar crease - Thumb anomalies (excluding hypoplasia) - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray