Abdallat Davis Farrage syndrome

Abdallat Davis Farrage syndrome

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OMIM = 270750
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Abdallat Davis Farrage syndrome is a phakomatosis consisting of disordered skin and hair pigmentation, progressive spastic paraparesis and peripheral neuropathy. It is also known as neurocutaneous syndrome, Abdallat type.

The syndrome is thought to be inherited as an autosomal recessive genetic trait.

Symptoms

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

References

* PMID 7441281

External links

* [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270750 Online Mendelian Inheritance in Man: Spastic paraplegia 23]
*


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