Abdallat–Davis–Farrage syndrome is a form of

phakomatosis Phakomatoses, also known neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses ar ...

, a disease of the central nervous system accompanied by skin abnormalities. It is characterized by the out of the ordinary pigment of the skin that is abnormal to one's genetics or the color perceived on a basis. 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 Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and pink or blue eyes. Individuals with the condition are referred to as albino. Varied use and interpretation of the term ...

(hair) * Irregular decreased

skin pigmentation Human skin color ranges from the darkest brown to the lightest hues. Differences in skin color among individuals is caused by variation in pigmentation, which is the result of genetics (inherited from one's biological parents and or individu ...

* Excessive freckling * Insensitivity to pain *

Paraparesis Paraplegia, or paraparesis, is an impairment in motor or sensory function of the lower extremities. The word comes from Ionic Greek () "half-stricken". It is usually caused by spinal cord injury or a congenital condition that affects the neural ...

/ quadraparesis

Genetics

The syndrome is thought to be inherited as an

autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in au ...

recessive gene In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

tic 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.

Treatment

References

External links

Autosomal recessive disorders Syndromes affecting the skin Genetic disorders with OMIM but no gene Syndromes affecting the nervous system {{genetic-disorder-stub