Further delineation of the behavioral and neurologic features in Costello syndrome

Hiroshi Kawame, Mihoko Matsui, Kenji Kurosawa, Mari Matsuo, Mitsuo Masuno, Hirofumi Ohashi, Noboru Fueki, Kouki Aoyama, Yukiko Miyatsuka, Kaoru Suzuki, Akira Akatsuka, Yukikatsu Ochiai, Yoshimitsu Fukushima

Research output: Contribution to journalArticlepeer-review

45 Citations (Scopus)


To describe clinical and neurodevelopmental phenotypes of Costello syndrome, we performed a retrospective review of the clinical records and findings in 10 children with Costello syndrome. All patients showed significant postnatal growth retardation and severe feeding difficulties leading to failure to thrive from early infancy. All required tube feeding and some needed high-calorie formulas for variable periods. Developmental quotients/IQs in seven children were 50 or less, and three were in the mildly retarded range. Five had seizures. Remarkable manifestations not previously reported were the characteristic behavior in infancy. Although happy and sociable personality was always emphasized in the genetic literature, all children showed significant irritability, including hypersensitivity to sound and tactile stimuli, sleep disturbance, and excess shyness with strangers in infancy. Those symptoms usually disappeared around age 2-4 years. Other clinical signs included cardiac abnormalities (8), musculoskeletal abnormalities (10), ophthalmological manifestations (5), increased urinary vanillymandelic acid (VMA) and homovanillic acid (HVA) (3), rhabdomyosarcoma (1), laryngomalacia (1), and cryptorchidism (1). Only three girls had papillomata. Family histories were negative for Costello syndrome. In conclusion, we confirm the wide spectrum of mental function in patients with Costello syndrome, which ranges from severe to mild. During infancy Costello syndrome showed remarkable irritability with severe feeding problems, which attributes significant difficulties to the parents of affected children.

Original languageEnglish
Pages (from-to)8-14
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume118 A
Issue number1
Publication statusPublished - 2003 Apr 1
Externally publishedYes


  • Costello syndrome
  • Developmental delay
  • HVA
  • Hypersensitivity
  • Irritability
  • Rhabdomyosarcoma
  • Sleep disturbance
  • VMA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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