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Fibulo-ulnar hypoplasia-renal anomalies syndrome

Disease definition

Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.

ORPHA:2256

Classification level: Disorder
  • Synonym(s):
    • Saito-Kuba-Tsuruta syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 228940
  • UMLS: C1856727
  • MeSH: -
  • GARD: 320
  • MedDRA: -
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