disease has major feature cervical hypertrichosis-peripheral neuropathy syndrome https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy https://www.malacards.org/card/cervical_hypertrichosis_peripheral_neuropathy_syndrome https://www.malacards.org/card/hypertrichosis_congenital_anterior_cervical_with_peripheral_sensory_and_motor_neuropathy UMLS:C1855902 Orphanet:2218 GARD:0001226 OMIM:239840 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. hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy cervical hypertrichosis peripheral neuropathy MONDO:0009405 MEDGEN:341004 MESH:C565492 hypertrichosis central nervous system malformation