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Intellectual disability-short stature-hypertelorism syndrome

MedGen UID:
1665709
Concept ID:
C4749650
Disease or Syndrome
Synonyms: intellectual deficit - short stature - hypertelorism; intellectual disability short stature hypertelorism; Intellectual disability, short stature, hypertelorism syndrome; intellectual disability-short stature-hypertelorism syndrome; mental retardation short stature hypertelorism; Stoll Geraudel Chauvin syndrome; Stoll-GC)raudel-Chauvin syndrome; Stoll-Géraudel-Chauvin syndrome
SNOMED CT: Intellectual disability, short stature, hypertelorism syndrome (771077007); Stoll Geraudel Chauvin syndrome (771077007)
 
Monarch Initiative: MONDO:0017668
Orphanet: ORPHA3074

Definition

A rare genetic syndromic intellectual disability affecting males with characteristics of short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad ''square'' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIntellectual disability-short stature-hypertelorism syndrome

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