Overview
Cervical hypertrichosis with peripheral neuropathy is a very rare inherited condition that combines two main features: unusual hair growth on the back of the neck and upper back (called cervical hypertrichosis), and damage to the nerves outside the brain and spinal cord (called peripheral neuropathy). This condition is also sometimes referred to as cervical hypertrichosis-peripheral neuropathy syndrome or hypertrichosis-neuropathy syndrome. The nerve damage in this condition affects the nerves that control movement and sensation in the arms and legs. Over time, people may notice weakness in their muscles, reduced reflexes, and changes in how they feel touch, pain, or temperature. The extra hair growth is usually present from birth or early childhood and appears as a thick patch of hair on the back of the neck and shoulders. Because this condition is so rare, treatment focuses on managing symptoms rather than curing the underlying cause. Physical therapy and supportive care can help maintain strength and function. A team of specialists is usually needed to monitor both the nerve and skin aspects of the condition. Early diagnosis is important so that the right support can be put in place as early as possible.
Key symptoms:
Thick or excessive hair growth on the back of the neck and upper backMuscle weakness, especially in the hands and feetReduced or absent reflexes (like the knee-jerk reflex)Numbness or tingling in the arms or legsDifficulty feeling touch, pain, or temperature normallyMuscle wasting (muscles becoming smaller over time)Difficulty walking or problems with balanceFoot deformities such as high arches
Clinical phenotype terms (6)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Cervical hypertrichosis-peripheral neuropathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cervical hypertrichosis-peripheral neuropathy syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Cervical hypertrichosis-peripheral neuropathy syndrome.
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Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What genetic tests should we do to confirm the diagnosis and find the specific gene change?,How quickly might the nerve damage progress, and what signs should we watch for?,What therapies or exercises can help maintain strength and prevent complications?,Are there any clinical trials or research studies we could participate in?,Should other family members be tested for this condition?,What specialists should be part of our care team, and how often should we have check-ups?,Are there any support groups or patient communities for this condition?
Common questions about Cervical hypertrichosis-peripheral neuropathy syndrome
What is Cervical hypertrichosis-peripheral neuropathy syndrome?
Cervical hypertrichosis with peripheral neuropathy is a very rare inherited condition that combines two main features: unusual hair growth on the back of the neck and upper back (called cervical hypertrichosis), and damage to the nerves outside the brain and spinal cord (called peripheral neuropathy). This condition is also sometimes referred to as cervical hypertrichosis-peripheral neuropathy syndrome or hypertrichosis-neuropathy syndrome. The nerve damage in this condition affects the nerves that control movement and sensation in the arms and legs. Over time, people may notice weakness in t
How is Cervical hypertrichosis-peripheral neuropathy syndrome inherited?
Cervical hypertrichosis-peripheral neuropathy syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cervical hypertrichosis-peripheral neuropathy syndrome typically begin?
Typical onset of Cervical hypertrichosis-peripheral neuropathy syndrome is childhood. Age of onset can vary across affected individuals.