ODCs

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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, Grebe type

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

Citations in the biomedical literature:

Proximal symphalangism		Acromesomelic dysplasia, Grebe type
	Synonym(s): - Symphalangism, Cushing type		Synonym(s): - Chondrodysplasia, Grebe 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: unknown Average age onset: neonatal/infancy 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 recessive

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


COMMON SIGNS	- Carpal bones fusion / synostosis - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly - Tarsal anomaly / fusion / synostosis

Proximal symphalangism		Acromesomelic dysplasia, Grebe type
	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 - Sensorineural deafness / hearing loss Occasional - Clinodactyly of fifth finger - Strabismus / squint - Syndactyly of fingers / interdigital palm - Wrist / carpal anomalies		Very frequent - Aphalangia / hands and feet phalangeal bones absence / hypoplasia / aplasia - Autosomal recessive inheritance - Bowed diaphysis / diaphyses / long bones - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Restricted joint mobility / joint stiffness / ankylosis - Short foot / brachydactyly of toes - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Postaxial polydactyly (hand) - Thumb hypoplasia / aplasia / absence - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Occasional - Death in infancy - Stillbirth / neonatal death