Schinzel type phocomelia

info · Syndrome

A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1.

Signs and symptoms

Aplasia/hypoplasia of the extremities
Short foot
Finger aplasia
Foot oligodactyly
Fibular aplasia
Aplasia/hypoplasia of the femur
Aplasia of the ulna
Anteriorly displaced genitalia
Prominent sternum
Barrel-shaped chest

Also known as: AARRS; Al Awadi-Raas-Rothschild syndrome; Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome; LPHAS; Schinzel phocomelia syndrome