Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology

Am J Med Genet. 1993 Aug 15;47(2):176-83. doi: 10.1002/ajmg.1320470210.


In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of similar appearance, and nasal papillomata, suggesting the existence of a previously undescribed syndrome of uncertain familial nature [Costello, Aust Paediatr J 13: 114-118, 1977]. The existence of this syndrome as a separate entity was substantiated several years later by two additional reports by Der Kaloustian et al. [Am J Med Genet 43:678-685, 1991] and Martin and Jones [Am J Med Genet 41:346-349, 1991]. More recently Borochowitz et al. [Am J Med Genet 43:678-685, 1992] described a new "multiple congenital anomalies/mental retardation syndrome with facio-cutaneous-skeletal involvement." Whether this condition should be considered separately from the Costello syndrome is currently a matter of debate. We present three cases, two of whom are sibs, who support the identity of the two syndromes. Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely autosomal recessive.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple* / classification
  • Abnormalities, Multiple* / genetics
  • Abnormalities, Multiple* / pathology
  • Cardiomyopathy, Hypertrophic / genetics
  • Dwarfism* / genetics
  • Dwarfism* / pathology
  • Face / abnormalities*
  • Foot Deformities, Congenital / genetics
  • Foot Deformities, Congenital / pathology
  • Genes, Recessive
  • Hair / abnormalities
  • Hand Deformities, Congenital / genetics
  • Hand Deformities, Congenital / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability* / genetics
  • Keratoderma, Palmoplantar
  • Male
  • Papilloma / genetics
  • Physiognomy
  • Skin Abnormalities*
  • Syndrome