distal arthrogryposis type 5D

A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1

A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1.

Signs and symptoms

• Congenital hip dislocation
• Decreased muscle mass
• Tongue atrophy
• Hyperlordosis
• Short neck
• Limited knee flexion
• Scoliosis
• Ptosis
• Short stature
• Furrowed tongue

Also known as: DA5D; distal arthrogryposis type 5 without ophthalmoparesis; distal arthrogryposis type 5 without ophthalmoplegia