ODCs

Click node...

2 OMIM references -
2 associated genes
15 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
18 signs/symptoms

Proximal symphalangism

Acromesomelic dysplasia, Hunter-Thomson type

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

Citations in the biomedical literature:

Proximal symphalangism		Acromesomelic dysplasia, Hunter-Thomson type
	Synonym(s): - Symphalangism, Cushing type		Synonym(s): - Acromesomelic dwarfism

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Elbow dislocation - Short hand / brachydactyly - Tarsal anomaly / fusion / synostosis - Wrist / carpal anomalies

Proximal symphalangism		Acromesomelic dysplasia, Hunter-Thomson type
	Very frequent - Autosomal dominant inheritance - Camptodactyly of some fingers - Carpal bones fusion / synostosis - Symphalangy of fingers Frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Humeroradial fusion - Metacarpal anomalies / Archibald's sign - Sensorineural deafness / hearing loss Occasional - Clinodactyly of fifth finger - Strabismus / squint - Syndactyly of fingers / interdigital palm		Very frequent - Ankle anomalies - Autosomal recessive inheritance - Irregular length / shape of fingers - Mesomelic micromelia - Short stature / dwarfism / nanism - Simian crease / transverse / unique palmar crease - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thumb hypoplasia / aplasia / absence Frequent - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Intellectual deficit / mental / psychomotor retardation / learning disability - Patella dislocation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis