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Thomas syndrome

ORPHA:3316· ICD-10 Q87.8

Definition

Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Antenatal, Neonatal