Coffin-Siris Syndrome

CLINICAL CHARACTERISTICS: Classically, Coffin-Siris syndrome (CSS) was characterized by specific dysmorphic features (coarse facies, sparse scalp hair, thick eyebrows with long lashes, wide nasal bridge with broad nasal tip, anteverted nares with thick ala nasi, wide mouth with thick, everted vermilion of the upper and lower lips, and hypertrichosis), the absence or underdevelopment of the fifth digit finger/toe or nail, learning and developmental differences, and various organ system-related…

via https://pubmed.ncbi.nlm.nih.gov/23556151/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1L37KAMf2b_g4WEK3LmdFuKZu9pO3cN7u4ZmO9PPCPeBLMIw1q&fc=None&ff=20250528010905&v=2.18.0.post9+e462414