Living with Stimmler syndrome
A rare genetic condition with small head size, short stature, severe learning difficulty, and diabetes.
Understanding Stimmler syndrome
It is linked to high blood levels of alanine, pyruvate, and lactate. Babies have low birth weight. Tooth enamel is thin, and many people develop limb ataxia, a loss of coordination that may lead to being unable to walk. Signs may begin in the newborn or infant years. GARD notes no further descriptions in the literature since 1970.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Small head (microcephaly)
- Short stature and low birth weight
- Severe intellectual disability
- Poor coordination (ataxia)
- Type 2 diabetes
- Thin tooth enamel and small teeth
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
Changes in genes (variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of a gene from each parent. GARD doesn't list which gene.
Also known as: alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus 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 Stimmler syndrome.
Explore research for Stimmler syndrome
Explore actively recruiting Stimmler syndrome studies with HealthSpark.
Find actively recruiting studies for Stimmler 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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