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Medical genetics. Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder, [1][2] identified by several developmental anomalies. Fraser syndrome is named for the geneticist George R. Fraser, who first described the syndrome in 1962.
Clitoromegaly (or macroclitoris[1]) is an abnormal enlargement of the clitoris that is mostly congenital; it is otherwise acquired through deliberately induced clitoral enlargement e.g. body modification by use of anabolic steroids, including testosterone. [2][3][4][5] It can happen as part of a gender transition.
Frasier syndrome is inherited in an autosomal dominant fashion, indicating the need for only one mutated allele in a cell to lead to expression of the disease. Mutations predominantly occur de novo, allowing for expression in an individual that has no family history of it. The mutations occur during gamete formation or early in embryogenesis.
Disorders of sex development (DSDs), also known as differences in sex development or variations in sex characteristics (VSC), [2] [3] are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. [4] DSDs is a clinical term used in some medical settings for what are ...
Progestin-induced virilization. Maternal use of androgens or high doses of certain weakly androgenic synthetic progestogens (progestins) structurally related to testosterone can masculinize (virilize) the vulva of a female fetus during susceptible times in pregnancy. [1][2] Some degree of fusion of the labioscrotal folds and urogenital folds ...
An autosomal recessive disorder of sex development, described as pseudovaginal perineoscrotal hypospadias (PPSH), was discovered in males in 1961. [39] The main feature of this syndrome was a vulva with the presence of bilateral testes and male urogenital tracts in which the ejaculatory ducts terminate in a blind-ending vagina. [4]
Fraser syndrome is a disorder that affects the development of the child prior to birth. Infants born with Fraser syndrome often have eyes that are malformed and completely covered by skin. Also the child is born with fingers and toes that are fused together along with abnormalities within the urine tract. [2]
FRAS1. Extracellular matrix protein FRAS1 is a protein that in humans is encoded by the FRAS1 (Fraser syndrome 1) gene. [5][6] This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal- basement membrane adhesion and organogenesis during development.