Snyder-Robinson 증후군 · 희귀질환 · 메디나우 · medinow

Snyder-Robinson 증후군 (Snyder-Robinson syndrome)의 공식 지정 정보와 코드, 공개 등록 기준, 질환 설명 및 출처를 확인하세요.

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

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