Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Dincsoy-Salih-Patel syndrome

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

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.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.