Costello syndrome

Term ID

DOID:0050469

Synonyms

• Faciocutaneoskeletal Syndrome
• FCS SYNDROME

Definition

A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. (2)

References

• GARD:1550
• MESH:D056685
• NCI:C84652
• OMIM:218040
• SNOMEDCT_US_2023_03_01:205803001
• UMLS_CUI:C0587248

Ontology

Human Disease   ( DOID:0050469 )