Revesz syndrome
Definicija
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.
Search
Pun naziv
Revesz syndrome
Kratki naziv
-
Sinonimi
Retinopathy-anemia-central nervous system anomalies syndromeRevesz-DeBuse syndromeDyskeratosis congenita with bilateral exudative retinopathy
Orpha broj
Kategorija
Podkategorija
Naziv na stranom jeziku
-
Prevalenca
NULL
Nasleđivanje
Autosomal dominant
Period početka bolesti
-
ICD 10
OMIM
UMLS
GARD
MEDDRA
Tekstualni opis
-
Etiologija
-
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
-
Tretman
-
Dijagnostičke metode
-
Antenatalna dijagnoza
-
Epidemiologija
-
Genetsko savetovanje
-
Terapija
-
Klinička istraživanja
-