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Pelvis-shoulder dysplasia

Orpha number ORPHA2839
Synonym(s) Kosenow syndrome
Scapuloiliac dysostosis
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q87.5
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Approximately 10 patients have been reported so far. Additional skeletal abnormalities may include hypoplasia of the clavicles, ribs, femora and fibula, together with spina bifida and prominent lumbar lordosis. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Intelligence is described as normal. Pelvis-shoulder dysplasia seems to be a genetically heterogeneous disorder but no causative genes have been identified so far. Autosomal dominant inheritance has been described in some cases. Pelvis-shoulder dysplasia is phenotypically similar to pelvis-scapular dysplasia (Cousin syndrome, which also presents with craniocervical abnormalities; see this term), and, according to some authors, the two entities represent different manifestations of the same disease.

Expert reviewer(s)

  • Pr Raoul HENNEKAM

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