ODCs

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1 OMIM reference -
1 associated gene
9 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
18 signs/symptoms

Angel-shaped phalango-epiphyseal dysplasia

Acromesomelic dysplasia, Hunter-Thomson type

GDF5

Citations in the biomedical literature:

Angel-shaped phalango-epiphyseal dysplasia		Acromesomelic dysplasia, Hunter-Thomson type
	Synonym(s): - ASPED		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: <1 / 1 000 000 Average age onset: variable 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: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Short stature / dwarfism / nanism

Angel-shaped phalango-epiphyseal dysplasia		Acromesomelic dysplasia, Hunter-Thomson type
	Very frequent - Autosomal dominant inheritance - Epiphyseal anomaly Frequent - Anomalies of teeth and dentition - Arthritis / synovitis / synovial proliferation - Delayed dentition / eruption of teeth / lack of eruption of teeth Occasional - Delayed bone age - Hyperextensible joints / articular hyperlaxity		Very frequent - Ankle anomalies - Autosomal recessive inheritance - Elbow dislocation - Irregular length / shape of fingers - Mesomelic micromelia - Short hand / brachydactyly - Simian crease / transverse / unique palmar crease - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tarsal anomaly / fusion / synostosis - Thumb hypoplasia / aplasia / absence Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Patella dislocation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Wrist / carpal anomalies