Costello syndrome
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Synopsis
The syndrome presents with characteristic coarse facial features, distinctive hand posture, intellectual disability, severe feeding difficulty, failure to thrive, short stature, cardiac problems, and a predisposition to neoplasia.
Costello syndrome is very rare: approximately 300 patients have been reported. Boys and girls are equally affected.
Codes
ICD10CM:Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
SNOMEDCT:
309776008 – Costello syndrome
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Differential Diagnosis & Pitfalls
Costello syndrome belongs to the RASopathies, a class of genetic syndromes that are caused by dysregulation of the Ras / MAPK pathway and that includes Noonan syndrome and cardiofaciocutaneous syndrome. The RASopathies have overlapping features.- Cardiofaciocutaneous syndrome – Caused by mutations in BRAF, MEK1, MEK2, or KRAS genes; characterized by a distinctive craniofacial appearance, cutaneous abnormalities, congenital heart defects, growth retardation, and intellectual disability; in contrast to Costello syndrome, hair is more consistently sparse / curly, and papillomata and malignant tumors are not seen.
- Noonan syndrome – Caused by mutations in PTPN11 gene; characterized by distinctive facial features, short stature, congenital heart defects, and chest deformity with superior pectus carinatum and inferior pectus excavatum; in contrast to Costello syndrome, failure to thrive and feeding difficulties are less severe.
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Last Reviewed:06/20/2017
Last Updated:06/15/2022
Last Updated:06/15/2022