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Costello syndrome: an overview.

Raoul C M Hennekam¹

¹Department of Pediatrics, Academic Medical Center, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands. r.c.hennekam@amc.uva.nl

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

|February 1, 2003

Summary

Costello syndrome is a genetic disorder causing growth issues, distinctive facial features, and developmental delays. Research suggests disturbed elastogenesis may underlie its complex symptoms and cancer predisposition.

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Area of Science:

Genetics
Developmental Biology
Dermatology

Background:

Costello syndrome presents with prenatal overgrowth, postnatal growth retardation, coarse facial features, loose skin (cutis laxa-like), cardiomyopathy, and developmental delay.
Patients exhibit characteristic behaviors, oral papillomata, and a significant predisposition to malignancies, particularly rhabdomyosarcoma.
The disorder is presumed autosomal dominant, with unclear pathogenesis but potential links to elastogenesis defects.

Purpose of the Study:

To review and synthesize the clinical findings and proposed pathogenetic mechanisms of Costello syndrome.
To consolidate information from 73 detailed patient case reports.

Main Methods:

Literature review and synthesis of existing case study data.
Analysis of clinical manifestations and proposed molecular pathways.

Main Results:

Detailed characterization of the multifaceted clinical phenotype of Costello syndrome.
Identification of disturbed elastogenesis, possibly involving proteoglycan accumulation, as a potential pathogenetic factor.

Conclusions:

Costello syndrome is a complex genetic disorder with a distinct clinical profile and associated malignancies.
Further research into elastogenesis is warranted to elucidate the underlying pathogenesis and inform potential therapeutic strategies.

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