Living with GMS syndrome
An extremely rare syndrome with eye drainage differences, intellectual disability, short stature, and a small head, seen in one family.
Understanding GMS syndrome
It involves goniodysgenesis (a difference in the eye's drainage area), intellectual disability, and short stature. People also have a small head (microcephaly), short nose, and small hands and ears. GARD says there have been no further descriptions in the literature since 1992. It is noticed in the newborn period.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Small head size (microcephaly)
- Intellectual disability
- Feeding difficulties in infancy
- Low-set ears
- Flat nasal bridge
- Born early (premature birth)
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, eye disease 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); Eye disease specialists (ophthalmologists); 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
Changes in genes cause this condition. GARD does not name the gene or describe how it is inherited.
Also known as: goniodysgenesis with intellectual disability and short stature syndrome; goniodysgenesis with mental deficiency and short stature; goniodysgenesis-intellectual disability-short stature 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 GMS syndrome.
Explore research for GMS syndrome
Explore actively recruiting GMS syndrome studies with HealthSpark.
Find actively recruiting studies for GMS syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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