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Costello syndrome

N Philip1, S Sigaudy

  • 1Departement de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France.

Journal of Medical Genetics
|April 16, 1998
PubMed
Summary
This summary is machine-generated.

Costello syndrome is a rare genetic disorder characterized by growth deficiency and distinctive facial features. Early diagnosis relies on clinical expertise due to unknown molecular basis.

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Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Costello syndrome presents with postnatal growth deficiency, coarse facies, redundant skin, and papillomata.
  • The condition exhibits a biphasic natural history: initial failure to thrive followed by normal weight gain.
  • Cardiomyopathy is common, while other visceral involvement is rare; mild to moderate intellectual disability is typical.

Purpose of the Study:

  • To summarize the key clinical characteristics and natural history of Costello syndrome.
  • To highlight the diagnostic challenges and typical manifestations of the condition.
  • To discuss the presumed sporadic nature and potential for de novo dominant mutations.

Main Methods:

  • Clinical case review and synthesis of existing literature.

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  • Analysis of characteristic phenotypic features.
  • Evaluation of the natural course of the disease.

    • Main Results:

    • Key features include growth deficiency, coarse facies, redundant skin, acanthosis nigricans, and papillomata.
    • Papillomata are a hallmark but may appear late; diagnosis relies on clinical expertise.
    • Most cases are sporadic, suggesting de novo dominant mutations.

    Conclusions:

    • Costello syndrome is identifiable through characteristic facies, ectodermal anomalies, and disease course.
    • The molecular basis remains unknown, emphasizing clinical diagnosis.
    • The condition's unique presentation aids early identification in sporadic cases.