phakomatosis
English
Alternative forms
- phacomatosis
Etymology
phak- + -omato- + -osis, from the Greek φακός (phakós, “spot, lens”), -ωμα (-ōma, “process”), and the suffix -osis; the term was introduced by Dutch ophthalmologist Jan van der Hoeve in 1920, before the distinct genetic basis of each of these diseases was understood.
Pronunciation
- IPA(key): /ˌfeɪkəʊməˈtəʊsɪs/, /ˌfæk-/
Noun
phakomatosis (plural phakomatoses)
- Any of a group of neurocutaneous disorders of the central nervous system causing lesions on the skin and eye.
Synonyms
- neuro-oculo-cutaneous syndrome, neurocutaneous disorder, neurocutaneous syndrome
Hyponyms
- angiophakomatosis
- Sturge-Weber syndrome
- von Hippel–Lindau disease
- ataxia-telangiectasia
- incontinentia pigmenti
- neurofibromatosis
- nevoid basal cell carcinoma syndrome
- tuberous sclerosis
- Wyburn-Mason syndrome (Bonnet–Dechaume–Blanc syndrome)