Intellectual disability-short stature-hypertelorism syndrome

Orpha code: 3074OMIM code:

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.

Disease data
Classification

Malformation syndrome

Synonyms
Stoll-Géraudel-Chauvin syndrome
Zespół Stolla, Géraudela i Chauvina
ORPHA code
3074
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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