Costello syndrome

Orpha code: 3071OMIM code: 218040

Definition

A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway.

Disease data
Classification

Malformation syndrome

Synonyms
FCS syndrome
Zespół FCS
Zespół twarzowo-skórno-szkieletowy
Faciocutaneoskeletal syndrome
ORPHA code
3071
OMIM code
218040
ICD10 code
Q87.8
ICD11 code
LD2F.1Y

No additional description.

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