Intellectual deficit - short stature - hypertelorism

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Alternate names

Stoll-Géraudel-Chauvin syndrome

Definition

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.

NIH genetic and rare disease info

Intellectual deficit - short stature - hypertelorism is a rare disease.

Rare and genetic diseases

Rare diseases - Intellectual deficit - short stature - hypertelorism

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Intellectual deficit - short stature - hypertelorism

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