Fibulo-ulnar hypoplasia-renal anomalies 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.

Also known as: Saito-Kuba-Tsuruta syndrome, FIBULOULNAR aplasia or hypoplasia with renal abnormalities, Fibulo ulnar hypoplasia renal anomalies, Saito Kuba Tsuruta syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Fibulo-ulnar hypoplasia-renal anomalies syndrome itself.