ODCs

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1 OMIM reference -
1 associated gene
15 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

3 OMIM references -
2 associated genes
13 signs/symptoms

Fibular aplasia - complex brachydactyly

Brachydactyly type A1

GDF5	(UniProt - OMIM)		GDF5	(UniProt - OMIM)
			IHH	(UniProt - OMIM)

Citations in the biomedical literature:

Fibular aplasia - complex brachydactyly		Brachydactyly type A1
	Synonym(s): - Du Pan syndrome		Synonym(s): - Brachydactyly, Farabee 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 dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C537088


COMMON SIGNS	- Short hand / brachydactyly - Short stature / dwarfism / nanism - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Fibular aplasia - complex brachydactyly		Brachydactyly type A1
	Very frequent - Autosomal recessive inheritance - Carpal bones fusion / synostosis - Epiphyseal anomaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Narrow nasal bridge - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Simian crease / transverse / unique palmar crease - Tarsal anomaly / fusion / synostosis - Thumb anomalies (excluding hypoplasia) - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly		Very frequent - Autosomal dominant inheritance - Short big toe - Short foot / brachydactyly of toes - Thumb hypoplasia / aplasia / absence Frequent - Cone epiphyses / epiphysis Occasional - Clinodactyly of fifth finger - Metacarpal anomalies / Archibald's sign - Scoliosis - Symphalangy of fingers - Talipes-varus / metatarsal varus