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Autosomal recessiveFindingsMaleFRAS1FraserFound
Autosomal recessive1
  • Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder, identified by several developmental anomalies. (wikipedia.org)
Findings2
  • The authors noted that the findings in the sibs were consistent with classic Fraser syndrome. (wikipedia.org)
  • Retinal findings may change in patients with obstructive sleep apnea syndrome (OSAS). (bvsalud.org)
Male1
  • An earlier pregnancy had resulted in the intrauterine death at 30 weeks of gestation of a male fetus with a normal karyotype in whom the diagnosis of Fraser syndrome was suggested by the presence of cryptophthalmos, syndactyly, ambiguous genitalia, imperforate anus, bilateral renal agenesis, pulmonary hypoplasia, and hydrocephalus. (wikipedia.org)
FRAS13
Fraser22
  • Fraser syndrome is a rare disorder that affects development starting before birth. (medlineplus.gov)
  • Cryptophthalmos is the most common abnormality in people with Fraser syndrome. (medlineplus.gov)
  • Eye abnormalities typically lead to impairment or loss of vision in people with Fraser syndrome. (medlineplus.gov)
  • Cutaneous syndactyly typically occurs in both the hands and the feet in Fraser syndrome. (medlineplus.gov)
  • Other abnormalities of the hands and feet can occur in people with Fraser syndrome. (medlineplus.gov)
  • Individuals with Fraser syndrome can have abnormalities of the genitalia, such as an enlarged clitoris in females or undescended testes (cryptorchidism) in males. (medlineplus.gov)
  • The most common urinary tract abnormality in Fraser syndrome is the absence of one or both kidneys (renal agenesis). (medlineplus.gov)
  • A variety of other signs and symptoms can be involved in Fraser syndrome, including heart malformations or abnormalities of the voicebox (larynx) or other parts of the respiratory tract. (medlineplus.gov)
  • Fraser syndrome affects an estimated 1 in 200,000 newborns. (medlineplus.gov)
  • It is unknown how lack of the FRAS/FREM complex leads to kidney and genital abnormalities and other problems in Fraser syndrome. (medlineplus.gov)
  • Fraser syndrome is named for the geneticist George R. Fraser, who first described the syndrome in 1962. (wikipedia.org)
  • 2003) located the Fraser syndrome locus to chromosome 4q21. (wikipedia.org)
  • In 6 of 18 consanguineous families with Fraser syndrome, van Haelst et al. (wikipedia.org)
  • citation needed] In 5 families with Fraser syndrome, McGregor et al. (wikipedia.org)
  • In an infant girl with Fraser syndrome, Slavotinek et al. (wikipedia.org)
  • 200110) or an intermediate phenotype between AMS and Fraser syndrome, and the other had classic Fraser syndrome. (wikipedia.org)
  • 2007) concluded that a phenotype resembling AMS is a rare clinical expression of Fraser syndrome, with no obvious genotype/phenotype correlation. (wikipedia.org)
  • An earlier pregnancy had resulted in the intrauterine death at 30 weeks of gestation of a male fetus with a normal karyotype in whom the diagnosis of Fraser syndrome was suggested by the presence of cryptophthalmos, syndactyly, ambiguous genitalia, imperforate anus, bilateral renal agenesis, pulmonary hypoplasia, and hydrocephalus. (wikipedia.org)
  • The authors noted that the findings in the sibs were consistent with classic Fraser syndrome. (wikipedia.org)
  • citation needed] Among 18 consanguineous families with Fraser syndrome, van Haelst et al. (wikipedia.org)
  • The diagnosis of Fraser syndrome should be entertained in patients with a combination of acrofacial and urogenital malformations with or without cryptophthalmos. (wikipedia.org)
  • 1986) also emphasized the occurrence of the cryptophthalmos syndrome without cryptophthalmos and proposed diagnostic criteria for Fraser syndrome. (wikipedia.org)
Found1