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Phakomatoses

**Phakomatoses**
*Classification & external resources*
ICD-10	Q85.
ICD-9	759.5-759.6
DiseasesDB	31496
MeSH	D020752

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.

Additional recommended knowledge

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Essential Laboratory Skills Guide

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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.^[1]

Examples of phakomatoses

References

^ Enersen, Ole Daniel. Jan van der Hoeve. Who Named It?. Retrieved on 2007-07-13.

1147863071 at GPnotebook
vi_1/p/PHAKOMATOSIS article at GE's Medcyclopaedia
KidsHealth
OSU

v • d • e Phakomatoses and other congenital malformations not elsewhere classified (Q85-Q89, 759)
Phakomatoses	Neurofibromatosis (type I, type II) - Tuberous sclerosis - Peutz-Jeghers syndrome - 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	spleen: Asplenia - Splenomegaly endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst Situs inversus - Conjoined twins Cowden syndrome - Hamartoma