코스텔로 증후군 · 희귀질환 · 메디나우 · medinow

코스텔로 증후군 (Costello syndrome)의 공식 지정 정보와 코드, 공개 등록 기준, 질환 설명 및 출처를 확인하세요.

A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway.

출처: Orphanet / INSERM · 2026-06-23 · CC BY 4.0 · 영어 원문, HTML 서식 제거 · 영어 원문