Abdallat Davis Farrage syndrome
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| Abdallat Davis Farrage syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 270750 |
Abdallat Davis Farrage syndrome is a phakomatosis consisting of disordered skin and hair pigmentation, progressive spastic paraparesis and peripheral neuropathy. It is a type of neurocutaneous syndromes, called Abdallat type.
It was characterized in 1980 by Adnan Abdallat, a Jordanian doctor.[1]
The syndrome is thought to be inherited as an autosomal recessive genetic trait.
[edit] Symptoms
- Albinism (hair)
- Irregular decreased skin pigmentation
- Excessive freckling
- Insensitivity to pain
- Paraparesis/quadraparesis
[edit] References
- ^ Abdallat A, Davis SM, Farrage J, McDonald WI (1980). "Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome". J Neurol Neurosurg Psychiatry 43 (11): 962–6. doi:10.1136/jnnp.43.11.962. PMC 490745. PMID 7441281. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=490745.
[edit] External links
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