Living with Intellectual disability-short stature-hypertelorism syndrome
A rare syndrome with short stature, mild to moderate intellectual disability, and distinct facial features.
Understanding Intellectual disability-short stature-hypertelorism syndrome
Facial features include a prominent, broad, square forehead, widely spaced eyes (hypertelorism), a flat nasal bridge, and a broad nasal tip. Low muscle tone is typically present until infancy. GARD notes there have been no further descriptions in the medical literature since 1991.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Short stature
- Broad forehead
- Frontal bossing
- Underdeveloped cheekbones
- Long philtrum
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD describes this as a genetic syndrome. It doesn't list a gene or inheritance pattern.
Also known as: intellectual disability, short stature, hypertelorism syndrome; stoll geraudel chauvin syndrome; stoll-géraudel-chauvin syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Intellectual disability-short stature-hypertelorism syndrome.
Explore research for Intellectual disability-short stature-hypertelorism syndrome
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- Recruiting studies from ClinicalTrials.gov
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