Also known as FCS SYNDROME, Faciocutaneoskeletal Syndrome, CSTLO, COSTELLO SYNDROME, Myopathy, Congenital, With Excess of Muscle Spindles, COSTELLO SYNDROME; CSTLO
syndrome characterized by craniofacial dysmorphology, cardiac defects, mild intellectual disability, and high birth weight followed by a failure to thrive and developmental delays
via PubMed
克斯提洛氏彈性蛋白缺陷症(Costello syndrome),又名小黑人症、科斯特洛綜合症、面肌肉骨骼綜合症(faciocutaneoskeletal syndrome)或FCS綜合症等各種名稱,是一種罕見的遺傳疾病,會影響身體的許多部位。「小黑人症」這個名稱源於患者的皮膚常因而黝黑。
Abstract from DBpedia / Wikipedia · CC BY-SA
via Wikidata · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).