Geroderma osteodysplastica

Definicija

Geroderma osteodisplastika (GO) karakteriše se prekomernom i naboranom kožom (posebno na leđima ruku, stopala i abdomena), progeroidnim osobinama, dislokacijom kukova, labavošću zglobova, niskim rastom/dvorfizmom, izraženom osteoporozom, nepravilnostima pršljenova, spontanim prelomima, kao i kašnjenjem u razvoju i blagim intelektualnim deficitom.

Pretraga

Pun naziv

Geroderma osteodysplastica

Kratki naziv

-

Sinonimi

Orpha broj

2078

Kategorija

Podkategorija

Naziv na stranom jeziku

-

Prevalenca

NULL

Nasleđivanje

Autosomal recessive

Period početka bolesti

-

ICD 10

Q82.8

OMIM

231070

UMLS

C0432255

GARD

413

MEDDRA

Tekstualni opis
The severe osteoporosis and early spontaneous fractures, together with the absence of large, open fontanels are usually distinguishing features of GO.
Etiologija
Although the etiology in some cases remains unknown, mutations in the GORAB gene (1q24.2) have been identified in some families. Mutations in the PYCR1 gene (17q25.3) have recently been identified in patients with the clinically overlapping phenotypes (wrinkly skin, osteopenia and progeroid features) of GO, autosomal recessive cutis laxa type 2 (ARCL2), wrinkly skin syndrome (WSS), and De Barsy syndrome (DBS; see these terms).
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
Bisphosphonates can be successfully used in cases with severe osteopenia.
Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
Prevalence is unknown.
Genetsko savetovanje
GO is transmitted in an autosomal recessive manner.
Terapija
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Klinička istraživanja
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