ODCs

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1 OMIM reference -
1 associated gene
15 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

1 OMIM reference -
1 associated gene
18 signs/symptoms

Fibular aplasia - complex brachydactyly

Acromesomelic dysplasia, Grebe type

GDF5

Citations in the biomedical literature:

Fibular aplasia - complex brachydactyly		Acromesomelic dysplasia, Grebe type
	Synonym(s): - Du Pan syndrome		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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - 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 - Carpal bones fusion / synostosis - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Tarsal anomaly / fusion / synostosis - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Fibular aplasia - complex brachydactyly		Acromesomelic dysplasia, Grebe type
	Very frequent - Epiphyseal anomaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Narrow nasal bridge - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Simian crease / transverse / unique palmar crease - Thumb anomalies (excluding hypoplasia) - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray		Very frequent - Aphalangia / hands and feet phalangeal bones absence / hypoplasia / aplasia - Bowed diaphysis / diaphyses / long bones - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Metacarpal anomalies / Archibald's sign - Short foot / brachydactyly of toes Frequent - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Postaxial polydactyly (hand) - Thumb hypoplasia / aplasia / absence Occasional - Death in infancy - Stillbirth / neonatal death