Development of individuals with thanatophoric dysplasia surviving beyond infancy

Pediatr Int. 2022 Jan;64(1):e15007. doi: 10.1111/ped.15007.


Background: This study aimed to analyze the physical and psychosocial development of long-term survivors (age >1 year) of thanatophoric dysplasia (TD).

Methods: The participants were 20 long-term survivors recruited from a cohort obtained through a nationwide survey for TD conducted across 147 pediatric departments in Japan between 2012 and 2016. Their guardians consented to participate in this study. Medical and psychosocial information was collected through questionnaires and interviews with primary physicians and guardians.

Results: The participants were 1.2-27.8 years old, and all showed marked growth deficiency. The mean length at birth was 36 cm (-3.4 SD to -7.9 SD). The adult height (age >16 years) was <-15.2 SD. All individuals showed severely delayed psychomotor development. The highest level of psychosocial development was equivalent to that at 2 years of age. Skin disorders (acanthosis nigricans and seborrheic keratoses) were common. Eleven subjects had been hospitalized or institutionalized consistently after birth, and nine had been moved to home care, and four were exclusively orally fed. All individuals required assisted ventilation.

Conclusions: Long-term survival of TD individuals is common. Some individuals enjoy home-based lives; however, they are severely psychosocially and physically disabled and require meticulous respiratory and nutritional support.

Keywords: bioethics; genetic counseling; physical and psychosocial development; single gene disorder; thanatophoric dysplasia.

MeSH terms

  • Acanthosis Nigricans*
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Humans
  • Infant
  • Infant, Newborn
  • Receptor, Fibroblast Growth Factor, Type 3
  • Surveys and Questionnaires
  • Thanatophoric Dysplasia*
  • Young Adult


  • Receptor, Fibroblast Growth Factor, Type 3

Supplementary concepts

  • Thanatophoric Dysplasia, Type I