Distal Arthrogryposis Type 10

Watchlist
Retrieved
2021-01-23
Source
Trials
Genes
Drugs

A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.