Intellectual disability-short stature-hypertelorism syndrome

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Intellectual disability-short stature-hypertelorism syndrome

Synonyms: Stoll-Géraudel-Chauvin syndrome

Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature mild to moderate intellectual disability craniofacial dysmorphism (prominent broad ‘square’ forehead hypertelorism depressed nasal bridge broad nasal tip and anteverted nares) and early hypotonia typically present until infancy. There have been no further descriptions in the literature since 1991.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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