ODCs

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1 OMIM reference -
1 associated gene
18 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

1 OMIM reference -
1 associated gene
18 signs/symptoms

Acromesomelic dysplasia, Grebe type

Acromesomelic dysplasia, Hunter-Thomson type

GDF5

Citations in the biomedical literature:

Acromesomelic dysplasia, Grebe type		Acromesomelic dysplasia, Hunter-Thomson type
	Synonym(s): - Chondrodysplasia, Grebe 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 recessive		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: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short stature / dwarfism / nanism - Tarsal anomaly / fusion / synostosis - Thumb hypoplasia / aplasia / absence

Acromesomelic dysplasia, Grebe type		Acromesomelic dysplasia, Hunter-Thomson type
	Very frequent - Aphalangia / hands and feet phalangeal bones absence / hypoplasia / aplasia - Bowed diaphysis / diaphyses / long bones - Carpal bones fusion / synostosis - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Metacarpal anomalies / Archibald's sign - Short foot / brachydactyly of toes - Short limbs / micromelia / brachymelia Frequent - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Postaxial polydactyly (hand) - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Occasional - Death in infancy - Stillbirth / neonatal death		Very frequent - Ankle anomalies - Elbow dislocation - Irregular length / shape of fingers - Mesomelic micromelia - Simian crease / transverse / unique palmar crease - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia 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 - Scoliosis - Wrist / carpal anomalies