Orphanet: Fibulo ulnar hypoplasia renal anomalies syndrome

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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: C537226
GARD: 320
MedDRA: -

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Fibulo-ulnar hypoplasia-renal anomalies syndrome

ORPHA:2256

A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

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