Fraser syndrome

A rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.

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PMID (PMCID)
30364810 (6198391)	OTHER
	Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review.
	Falls ME, Rabinowitz MP, Carrasco JR, Rabinowitz MR. Allergy Rhinol (Providence). 2018;9:2152656718804905.
	Fraser syndrome is an autosomal recessive disorder characterized primarily by syndactyly, cryptophthalmos, urinary tract anomalies, ambiguous genitalia, and laryngeal anomalies.
18568997	FEMALE	Infant, Newborn
	Fraser syndrome: a new case report with review of the literature.
	Eskander BS, Shehata BM. Fetal Pediatr Pathol. 2008;27(2):99-104.
	We present a case of Fraser syndrome with bilateral cryptophthalmos and other common features of Fraser syndrome including syndactyly (hands and feet bilaterally), ambiguous genitalia with clitoromegaly, vaginal atresia, and unilateral renal agenesis.
18568997	FEMALE	Infant, Newborn
	Fraser syndrome: a new case report with review of the literature.
	Eskander BS, Shehata BM. Fetal Pediatr Pathol. 2008;27(2):99-104.
	We present a case of Fraser syndrome with bilateral cryptophthalmos and other common features of Fraser syndrome including syndactyly (hands and feet bilaterally), ambiguous genitalia with clitoromegaly, vaginal atresia, and unilateral renal agenesis.
16894541	FEMALE	Infant
	Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.
	Slavotinek A, Li C, Sherr EH, Chudley AE. Am J Med Genet A. 2006;140(18):1909-14.
	Fraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and mental retardation.
3895217	FEMALE	Adult
	Microphthalmia--prenatal ultrasonic diagnosis: a case report.
	Feldman E, Shalev E, Weiner E, Cohen H, Zuckerman H. Prenat Diagn. 1985;5(3):205-7.
	Diagnosis was made at 18 weeks' gestation in a fetus of a patient with a previous infant affected with the syndrome of cryptophthalmia with absence of septum nasi and ambiguous genitalia (Fraser syndrome).