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://www.orphadata.org. Data version April 2024
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Intellectual disability-short stature-hypertelorism syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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