Abdallat-Davis-Farrage syndrome

Abdallat-Davis-Farrage syndrome is a form of phakomatosis, a disease of the central nervous system accompanied by skin abnormalities, and is characterised by abnormal skin pigmentation. It is named after the team of medical professionals who first wrote it up, describing the syndrome in a family from Jordan, and it was characterised in 1980 by Adnan Abdallat, a Jordanian doctor. The clinical presentation includes albinism of the hair, irregular decreased skin pigmentation, excessive freckling, insensitivity to pain and paraparesis or quadriparesis. The syndrome is thought to be inherited as an autosomal recessive trait, so symptoms appear only in a person who inherits the gene from both parents; carriers typically show no symptoms, both sexes can be affected, and when a person inherits both copies symptoms usually appear before one year of age. This entry records what is described and is not medical advice.