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Fibular aplasia - complex brachydactyly
1 OMIM reference -
1 associated gene
19 connected diseases
15 signs/symptoms
Disease Type of connection
Brachydactyly type A2
Brachydactyly type C
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Angel-shaped phalango-epiphyseal dysplasia
Brachydactyly type A1
Multiple synostoses syndrome
Proximal symphalangism
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Juvenile polyposis of infancy
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Pulmonary venoocclusive disease
Fibrodysplasia ossificans progressiva
Situs ambiguus
Estrogen resistance syndrome
CARASIL
Synonym(s):
- Du Pan syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GDF5 P43026601146
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 hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Simian crease / transverse / unique palmar crease
- Tarsal anomaly / fusion / synostosis
- Thumb anomalies (excluding hypoplasia)
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray