Fibulo-ulnar hypoplasia-renal anomalies syndrome

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Synonyms: Saito-Kuba-Tsuruta syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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