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Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype

J P Fryns1, A Vogels, J Haegeman

  • 1Centre for Human Genetics, University of Leuven, Belgium.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1994
PubMed

Insights

Costello syndrome, a rare genetic disorder, presents with severe growth delays and distinct facial features. Affected individuals often exhibit hyperelastic skin, papillomas, and mild to moderate intellectual disability, alongside a happy disposition.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Costello syndrome is a rare MCA/MR (multiple congenital anomalies/mental retardation) disorder.
  • It is characterized by significant postnatal growth retardation as an initial clinical manifestation.

Observation:

  • Two unrelated patients, a 12-year-old girl and a 3-year-old boy, were diagnosed with Costello syndrome.
  • Progressive development of characteristic facial changes, hyperelastic skin, and papillomas was noted with age.

Findings:

  • Costello syndrome presents as a true MCA/MR syndrome.
  • Patients typically display a pleasant demeanor and mild to moderate intellectual disability.

Implications:

  • Early identification of Costello syndrome is crucial for managing growth and developmental outcomes.
  • Understanding the progressive nature of its physical and cognitive features aids in patient care and genetic counseling.

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