Living with Donohue syndrome
A rare inherited condition in which the body does not respond to insulin, leading to slow growth, a lack of body fat, and differences in many organs.
Understanding Donohue syndrome
Insulin helps move sugar from the blood into cells. In Donohue syndrome, the body can't do this well, which affects growth and many organs. Babies are unusually small starting before birth, grow slowly, and have little fat under the skin. Other features include muscle wasting, extra body hair, dark thick skin in body folds, enlarged organs, and distinct facial features. Repeated infections begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Insulin resistance
- Poor weight gain and slow growth
- Dark, thick, velvety skin (acanthosis nigricans)
- Muscle wasting
- Enlarged liver and kidneys
- Extra body or facial hair
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, hormone specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in INSR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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 says changes in the INSR gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: donohue's syndrome; leprechaunism; Leprechaunism syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Donohue syndrome.
Explore research for Donohue syndrome
Explore actively recruiting Donohue syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- 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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