Last update 19 Sep 2024

Coffin-Siris Syndrome

Basic Info

Synonyms
COFFIN-SIRIS SYNDROME, CSS, Coffin Siris syndrome
+ [16]
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

Perform a panoramic analysis of this field.
Perform a panoramic analysis of this field.
Chat with Hiro
Get started for free today!
Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.
Start your data trial now!
Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.
Bio
Bio Sequences Search & Analysis
Sign up for free
Chemical
Chemical Structures Search & Analysis
Sign up for free