Rare diseases

Davis C. Thomas

doi:10.1016/j.adaj.2026.03.023

2026-05-05

Davis C. Thomas *

J. Timothy Wright

DOI：10.1016/j.adaj.2026.03.023

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摘要

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据估计，美国有3000万人患有罕见病，而其中仅有少数疾病有可用的治疗方法。罕见病的病因和表型的多样性阻碍了诊断和治疗方法的进展。许多罕见病由致病性基因变异引起，并涉及颅面结构和功能。牙科护理提供者被要求为罕见病患者群体服务，并支持他们追求最佳健康的愿望。为应对这些口腔健康挑战，《JADA》（美国牙科学会杂志）通过一系列文章推出了一期关于罕见病的特刊。这些综述将探讨一些较为常见的罕见病以及那些具有类似特征的疾病，如涉及牙列、骨骼、免疫系统、皮肤或面部裂等。

Keyword:

Rare disease

genetic disorders

oral health

oral manifestations

craniofacial syndromes

craniofacial anomalies

special needs patients

Cystic fibrosis

Osteogenesis imperfecta

OMIM

Online Mendelian Inheritance in Man

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The Journal of the American Dental Association

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rutgers

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University of North Carolina

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