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.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
Fibulo ulnar hypoplasia renal anomalies
related
Saito Kuba Tsuruta syndrome
related
Saito-Kuba-Tsuruta syndrome
exact