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Fibulo-ulnar hypoplasia-renal anomalies syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Fibulo ulnar hypoplasia renal anomalies; Fibuloulnar aplasia or hypoplasia with renal abnormalities; Saito Kuba Tsuruta syndrome
SNOMED CT: Fibulo-ulnar hypoplasia and renal anomalies syndrome (716094008); Fibuloulnar hypoplasia with renal abnormalities (716094008); Saito Kuba Tsuruta syndrome (716094008)
Monarch Initiative: MONDO:0009233
OMIM®: 228940
Orphanet: ORPHA2256


This syndrome has features of fibuloulnar dysostosis with renal anomalies. It has been described in two siblings 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFibulo-ulnar hypoplasia-renal anomalies syndrome
Follow this link to review classifications for Fibulo-ulnar hypoplasia-renal anomalies syndrome in Orphanet.

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