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.
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
MONDO:0019713
non-syndromic limb reduction defect
is_a
AARRS
related
Al Awadi Teebi Farag syndrome
related
Al Awadi-Raas-Rothschild syndrome
exact
Al-Awadi-Raas-Rothschild syndrome
related
Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
related
Teebi Naguib Al Awadi syndrome
related
absence of ulna and fibula with severe limb deficiency
related
aplasia/hypoplasia of limbs and pelvis
exact
congenital absence of ulna and fibula
exact
profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence
related
severe limb deficit
exact
ulna and fibula absence of with severe limb deficiency
related