Living with Pseudoleprechaunism syndrome, Patterson type
A very rare genetic hormone condition with bronzed skin, loose skin on hands and feet, large features, and severe intellectual disability.
Understanding Pseudoleprechaunism syndrome, Patterson type
Features include bronze-colored skin, loose, wrinkled skin on the hands and feet, large hands, feet, nose, and ears, extra body hair, and severe intellectual disability. People may also have high adrenal hormone activity, diabetes, and bone differences that progress with age. GARD says it hasn't been described in the literature since 1981.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bronze-colored skin
- Loose, wrinkled skin on palms and soles
- Excess body hair (hirsutism)
- Severe intellectual disability
- Diabetes
- Seizures
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 says gene changes cause this condition. It doesn't name a gene or describe inheritance yet.
Also known as: patterson pseudoleprechaunism syndrome; patterson syndrome; pseudoleprechaunism syndrome patterson type
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 Pseudoleprechaunism syndrome, Patterson type.
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