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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

  1. ^ 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)
PhakomatosesNeurofibromatosis (type I, type II) - Tuberous sclerosis - Peutz-Jeghers syndrome - Sturge-Weber syndrome - Von Hippel-Lindau disease - Incontinentia pigmenti - Ataxia telangiectasia
Due to known exogenous causesFetal alcohol syndrome - Phocomelia (via Thalidomide)
Affecting multiple systemsfacial (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
Otherspleen: Asplenia - Splenomegaly

endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst

Situs inversus - Conjoined twins

Cowden syndrome - Hamartoma
 
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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