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Dincsoy-Salih-Patel syndrome

Orpha number ORPHA1678
Synonym(s) Facial dysmorphism - ambiguous genitalia - hypopituitarism - short limbs
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
  • C1832874
MeSH -
MedDRA -


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.

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