Living with Progeroid short stature with pigmented nevi
A rare genetic condition with slow growth before and after birth, early aging features, many moles and hearing loss.
Understanding Progeroid short stature with pigmented nevi
It begins around birth. Features include slow growth before birth, short stature, a small head, a bird-like face with little facial fat, sensorineural hearing loss and variable intellectual disability. Immune weakness and tumors have also been described.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature and small head
- Bird-like face with little facial fat
- Many pigmented moles
- Hearing loss
- Weakened immune system
- Delayed puberty and sleep problems
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 skin, hair, and nail 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); 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 Progeria Research Foundation, Inc. and other patient organizations
- 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 genes cause this condition but doesn't name a gene. It can be inherited in an autosomal dominant or autosomal recessive pattern.
Also known as: baraitser syndrome; mulvihill-smith syndrome; progeria-short stature-pigmented nevi syndrome
Patient organizations
- Progeria Research Foundation, Inc.Progeroid short stature with pigmented nevi · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Progeroid short stature with pigmented nevi.
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