Cervical hypertrichosis-peripheral neuropathy syndrome

Orpha code: 2218OMIM code: 239840

Definicja

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.

Disease data
Klasyfikacja

Disease

Kod ORPHA
2218
Kod OMIM
239840
Kod ICD10
G60.0
Kod ICD11
LD27.3

No additional description.

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