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De Hauwere syndrome

Orpha number ORPHA1831
Synonym(s) De Hauwere-Chitty syndrome
Iris dysplasia - hypertelorism - deafness
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
OMIM
UMLS
  • C2930925
MeSH
  • C535537
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by iris hypoplasia, ocular hypertelorism, psychomotor retardation, short stature, hypotonia and joint hyperlaxity. Mild deafness may also be present. It has been described in two members of one family. The mode of transmission has not been clearly defined but no male-to-transmission was observed.


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