ODCs

Click node...

1 OMIM reference -
1 associated gene
15 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

1 OMIM reference -
1 associated gene
18 signs/symptoms

Fibular aplasia - complex brachydactyly

Acromesomelic dysplasia, Hunter-Thomson type

GDF5

Citations in the biomedical literature:

Fibular aplasia - complex brachydactyly		Acromesomelic dysplasia, Hunter-Thomson type
	Synonym(s): - Du Pan syndrome		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: - Average age onset: - 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 - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short stature / dwarfism / nanism - Simian crease / transverse / unique palmar crease - Tarsal anomaly / fusion / synostosis

Fibular aplasia - complex brachydactyly		Acromesomelic dysplasia, Hunter-Thomson type
	Very frequent - Carpal bones fusion / synostosis - Epiphyseal anomaly - Narrow nasal bridge - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Short limbs / micromelia / brachymelia - Thumb anomalies (excluding hypoplasia) - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray		Very frequent - Ankle anomalies - Elbow dislocation - Irregular length / shape of fingers - Mesomelic micromelia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thumb hypoplasia / aplasia / absence Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Patella dislocation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Scoliosis - Wrist / carpal anomalies