Cervical hypertrichosis-peripheral neuropathy syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Cervical hypertrichosis-peripheral neuropathy syndrome

A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies spina bifida kyphoscoliosis and hallux valgus and developmental delay (one case). There have been no further descriptions in the literature since 1993.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.

Newly diagnosed with
Cervical hypertrichosis-peripheral neuropathy syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.