Living with Neonatal pseudo-hydrocephalic progeroid syndrome
A type of progeria (premature-aging look) that starts before birth, with slow growth, an older-looking face, and little fat under the skin.
Understanding Neonatal pseudo-hydrocephalic progeroid syndrome
People with progeria have features that make them look older than they are. Signs start before birth, with slow growth and weight gain. The face can look triangular, with a prominent forehead, pointed chin, small mouth, and small jaw. Hair is sparse and veins are prominent. Soft spots on the skull stay open longer. Some babies are born with teeth that fall out a few weeks later. Some people have intellectual or developmental disabilities.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Older-looking face
- Little fat under the skin (lipodystrophy)
- Teeth present at birth (natal teeth)
- Cataracts
- Nearsightedness (myopia)
- Thin, see-through skin
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, genetic specialists, hormone specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in POLR3A 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
- Brain and nervous system specialists (neurologists); 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 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 lists changes in the POLR3A gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: neonatal progeroid syndrome; wiedemann rautenstrauch syndrome; wiedemann-rautenstrauch syndrome
Patient organizations
- Progeria Research Foundation, Inc.Neonatal pseudo-hydrocephalic progeroid syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Neonatal pseudo-hydrocephalic progeroid syndrome.
Explore research for Neonatal pseudo-hydrocephalic progeroid syndrome
Explore actively recruiting Neonatal pseudo-hydrocephalic progeroid syndrome studies with HealthSpark.
Find actively recruiting studies for Neonatal pseudo-hydrocephalic progeroid 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Neonatal pseudo-hydrocephalic progeroid syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Neonatal pseudo-hydrocephalic progeroid syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Neonatal pseudo-hydrocephalic progeroid syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.