Cervical hypertrichosis-peripheral neuropathy syndrome

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.

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

1 clinical trial for this condition and its sub-types, 0 tagged with Cervical hypertrichosis-peripheral neuropathy syndrome itself.