Phakomatoses

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Phakomatoses
Classification & external resources
ICD-10 Q85.
ICD-9 759.5-759.6

Phakomatoses (or "neurocutaneous syndromes") are disorders of central nervous system that additionally result in lesions on the skin and the retina. These tissues have a common ectodermal origin. The term, which means "spot", was introduced by Jan van der Hoeve in the 1920s, before the distinct genetic basis of each of these diseases was understood.

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Phakomatoses and other congenital malformations not elsewhere classified (Q85-Q89, 759)
Phakomatoses Neurofibromatosis (type I, type II) - Tuberous sclerosis - Sturge-Weber syndrome - Von Hippel-Lindau disease - Incontinentia pigmenti - Ataxia telangiectasia
Due to known exogenous causes Fetal alcohol syndrome - Phocomelia (via Thalidomide)
Affecting multiple systems facial (Mobius syndrome, Goldenhar syndrome, Cyclopia, Apert syndrome)

short stature (Aarskog-Scott syndrome, Cockayne syndrome, Cornelia de Lange Syndrome, Dubowitz syndrome, Noonan syndrome, Robinow syndrome, Silver-Russell dwarfism, Seckel syndrome, Smith-Lemli-Opitz syndrome)

limbs (Holt-Oram syndrome, Klippel-Trenaunay-Weber syndrome, Nail-patella syndrome, Rubinstein-Taybi syndrome, Sirenomelia, VACTERL association)

overgrowth (Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome)

Marfan syndrome - Alport syndrome - Bardet-Biedl syndrome - Zellweger syndrome
Other Asplenia - Splenomegaly - Persistent thyroglossal duct - Thyroglossal cyst - Situs inversus - Conjoined twins - Cowden syndrome - Hamartoma - Peutz-Jeghers syndrome
 This disease article is a stub. You can help Wikipedia by expanding it.
Retrieved from "http://en.wikipedia.org/wiki/Phakomatoses"
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