Last update 08 May 2025

Coffin-Siris Syndrome

Basic Info

Synonyms
COFFIN-SIRIS SYNDROME, CSS, Coffin Siris syndrome
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Introduction
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.

Analysis

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