니콜라이데스-바라이서 증후군 · 희귀질환 · 메디나우 · medinow

니콜라이데스-바라이서 증후군 (Nicolaides-Baraitser syndrome)의 공식 지정 정보와 코드, 공개 등록 기준, 질환 설명 및 출처를 확인하세요.

A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth.

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