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intellectual disability-short stature-hypertelorism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability-short stature-hypertelorism syndrome

MONDO:0017668

Also known as:Stoll-GC)raudel-Chauvin syndromeStoll-Géraudel-Chauvin syndromeintellectual deficit - short stature - hypertelorism

Overview

Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by 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.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intellectual disability-short stature-hypertelorism syndrome.

104 publications have been identified in PubMed for intellectual disability-short stature-hypertelorism syndrome. Kisho has analyzed 80 by research type. Research spans Review / Meta-Analysis (63%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Research summaries	50	63%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3074

GARD

Genetic and Rare Diseases Info Center

GARD:3514

Questions for Your Care Team

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intellectual disability-short stature-hypertelorism syndrome

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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