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.
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
309776008 – Costello syndrome
Differential Diagnosis & Pitfalls
- 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.