Phocomelia, Schinzel type (Q94205)

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterised by skeletal malformations including intercalary limb deficiencies (phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), skull defects (frequently a defect of the occipital bone with or without meningocele).