A rare disorder characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.
Matched Phenotype
Gene
Mutation
MeSH
Rank (Similarity) |
PMID (PMCID) |
Phenotype(s) retrieved from Orphanet
Total: 4
HPO ID |
Term |
Frequency |
HP:0001622 |
Premature birth |
Very frequent (99-80%) |
HP:0001171 |
Split hand |
Frequent (79-30%) |
HP:0002997 |
Abnormality of the ulna |
Frequent (79-30%) |
HP:0006492 |
Aplasia/Hypoplasia of the fibula |
Frequent (79-30%) |
Phenotype(s) retrieved from case reports
Total: 0
HPO ID |
Term |
# of case reports |
Causative gene(s) retrieved from Orphanet
Total: 0
Gene Symbol |
Gene Name |
Entrez Gene ID |