A rare genetic disorder with an undetermined pattern of inheritance affecting mostly females. Clinical signs at birth include recurrent respiratory infections, poor feeding, hypotonia, joint laxity and characteristic shortened fifth digits with hypoplastic or absent nails and craniofacial appearance: microcephaly, wide nose and lips, sparse scalp hair but thick eyebrows and eyelashes. The clinical course includes developmental delays in motor skills and speech with associated moderate mental retardation. [ ]

Synonyms: Coffin-Siris Syndrome

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Term information

Legacy Concept Name

Coffin-Siris_Syndrome

Preferred Name

Coffin-Siris Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C1864967

code

C35321

Term relations

Subclass of: