Living with Cervical hypertrichosis-peripheral neuropathy syndrome
A rare genetic condition with extra hair on the front of the neck from birth and nerve damage affecting feeling and movement.
Understanding Cervical hypertrichosis-peripheral neuropathy syndrome
Other features may include retina differences, spina bifida, a curved spine, and a bent big toe. One person had developmental delay. GARD notes there have been no further descriptions in the medical literature since 1993. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra hair over the body
- Open skin sores (skin ulcers)
- Bone infection (osteomyelitis)
- Inflamed tissue around bones (periostitis)
- Dandy-Walker malformation (a brain difference)
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 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
- Brain and nervous system specialists (neurologists); 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 Dandy-Walker Alliance, 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. It is inherited in an autosomal recessive way, so a child inherits a changed copy of a gene from each parent.
Also known as: hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy
Patient organizations
- Dandy-Walker Alliance, Inc.Cervical hypertrichosis-peripheral neuropathy syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cervical hypertrichosis-peripheral neuropathy syndrome.
Explore research for Cervical hypertrichosis-peripheral neuropathy syndrome
Explore actively recruiting Cervical hypertrichosis-peripheral neuropathy syndrome studies with HealthSpark.
Find actively recruiting studies for Cervical hypertrichosis-peripheral neuropathy 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 Cervical hypertrichosis-peripheral neuropathy 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 Cervical hypertrichosis-peripheral neuropathy 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 Cervical hypertrichosis-peripheral neuropathy 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.