Phocomelia, Schinzel type
Phocomelia, Schinzel type
Definition
Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.
Also known as Al Awadi-Raas-Rothschild syndrome, aplasia/hypoplasia of limbs and pelvis, congenital absence of ulna and fibula, severe limb deficit — per MONDO