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Abdallat–Davis–Farrage syndrome

Medical condition

Field	Value
name	Abdallat Davis Farrage syndrome
image	Autosomal recessive - en.svg
caption	Abdallat–Davis–Farrage syndrome has an autosomal recessive pattern of inheritance.
symptoms	Albinism, irregular decreased skin pigmentation, excessive freckling, insensitivity to pain, peripheral neuropathy, and paraparesis/quadraparesis.
named after	Adnan Abdallat

Abdallat–Davis–Farrage syndrome is a form of phakomatosis, a disease of the central nervous system accompanied by skin abnormalities. It is characterized by abnormal skin pigmentation.

The condition is named after the team of medical professionals who first wrote it up, describing the appearance of the syndrome in a family from Jordan. It was characterized in 1980 by Adnan Abdallat, a Jordanian doctor.

Signs and symptoms

Clinical presentation is as follows:

Albinism (hair)
Irregular decreased skin pigmentation
Excessive freckling
Insensitivity to pain
Paraparesis/quadraparesis

Genetics

The syndrome is thought to be inherited as an autosomal recessive genetic trait, meaning that in order to manifest symptoms, a person must inherit a gene for Abdallat–Davis–Farrage syndrome from both parents. As it is also autosomal (not linked to either of the genes that determine gender), it can manifest in both men and women. Those with only one gene are carriers, and they typically manifest no symptoms; in the event that a person inherits both genes, symptoms usually appear before one year of age.

References

Abdallat, A.. (1980). "Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: A new neurocutaneous syndrome". Journal of Neurology, Neurosurgery, and Psychiatry.

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

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