Orphanet: Short rib polydactyly syndrome, Beemer Langer type
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Short rib-polydactyly syndrome, Beemer-Langer type

Disease definition

A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others.

ORPHA:93268

Classification level: Disorder
  • Synonym(s):
    • Short rib-polydactyly syndrome type 4
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q77.2
  • OMIM: 269860
  • UMLS: C0432198
  • MeSH: -
  • GARD: 4832
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Italiano (2016)

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