Fraser syndrome: a case report and review of the otolaryngologic manifestations

Int J Pediatr Otorhinolaryngol. 1995 Jan;31(1):85-90. doi: 10.1016/0165-5876(94)01058-6.


Fraser syndrome is a rare autosomal recessive disorder whose major manifestations are cryptophthalmos, syndactyly and genital abnormalities. These patients also frequently have malformations of the ears, nose and/or larynx. The diagnosis is usually made at birth from the obvious malformations, although occasionally made on prenatal ultrasound. Treatment is dependent on which malformations are present and genetic counseling is indicated. Prognosis is dependent on the severity of renal and laryngeal malformations.

Publication types

  • Case Reports

MeSH terms

  • Coloboma / complications*
  • Ear / abnormalities*
  • Eye Abnormalities*
  • Female
  • Genitalia / abnormalities*
  • Humans
  • Infant, Newborn
  • Larynx / abnormalities*
  • Nose / abnormalities*
  • Prognosis
  • Severity of Illness Index
  • Syndactyly / complications*
  • Syndrome