Phocomelia, Schinzel type

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, AARRS, Al Awadi Teebi Farag syndrome, Al-Awadi-Raas-Rothschild syndrome, Al-Awadi/Raas-Rothschild syndrome

1 clinical trial for this condition and its sub-types, 0 tagged with Phocomelia, Schinzel type itself.