Living with Short fifth metacarpals-insulin resistance syndrome
A rare genetic condition with short hand bones, insulin resistance and oddly shaped red blood cells.
Understanding Short fifth metacarpals-insulin resistance syndrome
People have a shortened fifth metacarpal (the long bone behind the pinky) on one or both hands. They also have insulin resistance, meaning the body doesn't respond well to insulin. Spherocytosis means red blood cells are round instead of flat. GARD lists onset in the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short hand bone behind the pinky
- Insulin resistance
- Round red blood cells (spherocytosis)
- Enlarged spleen
- Short stature
- Stuffy nose
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 genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 doesn't list a gene. The condition is inherited in an autosomal dominant pattern, meaning one changed copy of a gene is enough.
Also known as: short fifth metacarpal insulin resistance 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 Short fifth metacarpals-insulin resistance syndrome.
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