Coffin-Siris syndrome

Orpha code: 1465OMIM code: 618362

Definition

A rare genetic syndromic intellectual disability of broad phenotypic range characterized by developmental delay and variable clinical features which most commonly, but not consistently, include aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, and coarse facial features.

Disease data
Classification

Malformation syndrome

Synonyms
CSS
CSS
ORPHA code
1465
OMIM code
618362
ICD10 code
Q87.1
ICD11 code
LD27.0Y

No additional description.

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