Cervical hypertrichosis-peripheral neuropathy syndrome

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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 June 2024

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Cervical hypertrichosis-peripheral neuropathy syndrome?

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