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cervical hypertrichosis-peripheral neuropathy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cervical hypertrichosis-peripheral neuropathy syndrome

MONDO:0009405

Also known as:cervical hypertrichosis peripheral neuropathyhypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy

Overview

Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Motor polyneuropathy, Sensory neuropathy, Bone infection (osteomyelitis), and Anterior cervical hypertrichosis.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Motor polyneuropathy, Sensory neuropathy
Bones and joints

Diagnosis

Biomarker and diagnostic research for cervical hypertrichosis-peripheral neuropathy syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cervical hypertrichosis-peripheral neuropathy syndrome.

127 publications have been identified in PubMed for cervical hypertrichosis-peripheral neuropathy syndrome. Research spans Case Report / Case Series (48%), Review / Meta-Analysis (13%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Patient case studies	61	48%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:239840

Orphanet

European rare disease database

Orphanet:2218

GARD

Genetic and Rare Diseases Info Center

GARD:1226

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

cervical hypertrichosis-peripheral neuropathy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cervical hypertrichosis-peripheral neuropathy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications