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Dincsoy-Salih-Patel syndrome

Orpha number ORPHA1678
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code -
MIM number
Synonym(s) Facial dysmorphism - ambiguous genitalia - hypopituitarism - short limbs

Summary

This syndrome is characterized by defects of the midline including cleft lip and palate, flat nose, hypotelorism, dysgenesis of corpus callosum, in addition to short limbs, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism. It has been described in two sibs (male and female) born to consanguineous parents. It is likely to be an autosomal recessive syndrome. *Author: Orphanet (September 2006)*.

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