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Phocomelia, Schinzel type

Disease 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.

ORPHA:2879

  • Synonym(s):
    • Al Awadi-Raas-Rothschild syndrome
    • Aplasia/hypoplasia of limbs and pelvis
    • Congenital absence of ulna and fibula
    • Severe limb deficit
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.2
  • OMIM: 276820
  • UMLS: -
  • MeSH: -
  • GARD: 9212
  • MedDRA: -

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