distal arthrogryposis type 1C

info · Genetic

A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2.

Signs and symptoms

Camptodactyly of finger
Wrist flexion contracture
Narrow mouth
Cryptorchidism
Talipes equinovarus
Short stature
Rocker bottom foot
Limited neck range of motion
Hip contracture
Scoliosis

Also known as: DA1C