/phocomelia, Schinzel type

phocomelia, Schinzel type

Rare Disease

MONDO:0010164

Also Known As

Al Awadi-Raas-Rothschild syndromeaplasia/hypoplasia of limbs and pelviscongenital absence of ulna and fibulasevere limb deficitAARRSAl Awadi Teebi Farag syndromeAl-Awadi-Raas-Rothschild syndromeAl-Awadi/Raas-Rothschild syndromeAl-Awadi/Raas-Rothschild/Schinzel phocomelia syndromeSchinzel phocomelia syndromeTeebi Naguib Al Awadi syndromeabsence of ulna and fibula with severe limb deficiencylimb/pelvis-hypoplasia/aplasia syndromeprofound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligenceulna and fibula absence of with severe limb deficiencyulna and fibula, absence of, with severe limb deficiency

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.