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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.
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
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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 |
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This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Phakomatoses". A list of authors is available in Wikipedia.
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