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Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Fraser syndrome

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

Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.

Total: 42

(per page)

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.
	A 28-year-old man with Fraser syndrome presented with cryptophthalmos, microphthalmia, lacrimal system dysgenesis, and chronic sinusitis.
29873822	FEMALE
	Oral manifestations and rehabilitation in Fraser syndrome: A case report.
	Gallottini M, Llanos AH, Romito GA, Romano MM, de Oliveira FB, de Rezende NPM. Spec Care Dentist. 2018;38(4):249-254.
	Fraser syndrome (FS) is a rare recessive autosomal genetic disorder characterized by multisystemic malformations typically comprising cryptophthalmos, syndactyly, and renal defects.
29120500	FEMALE	Young Adult
	Oral healthcare in Fraser syndrome.
	Hassona Y, Kharoub H, Scully C. Spec Care Dentist. 2017;37(5):263-266.
	Fraser syndrome is a rare autosomal recessive disorder characterized by renal agenesis, cryptophthalmos, syndactyly, and laryngeal stenosis.
25811163	FEMALE	Infant
	Reconstruction of Unilateral Incomplete Cryptophthalmos in Fraser Syndrome.
	Tran AQ, Lee BW, Alameddine RM, Korn BS, Kikkawa DO. Ophthalmic Plast Reconstr Surg. 2017;33(3S Suppl 1):S73-S75.
	A full-term baby girl with Fraser syndrome was born with right incomplete cryptophthalmos.
28465758	OTHER
	Fraser Syndrome - a Case Report and Review of Literature.
	Dumitru A, Costache M, Lazaroiu AM, Simion G, Secara D, Cirstoiu M, Emanoil A, Georgescu TA, Sajin M. Maedica (Buchar). 2016;11(1):80-83.
	Fraser syndrome is a rare autosomal recessive genetic disorder characterized by major features such as cryptophthalmos, syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies.
28478476	OTHER	Child
	Isolated Bilateral Complete Cryptophthalmos.
	Farooqui JH, Thien Ha TH, Gomaa A. Nepal J Ophthalmol. 2016;8(16):186-188.
	Although cryptophthalmos, as a part of Fraser syndrome, has been reported many times, isolated cryptophthalmos without systemic associations is very rare.
28478476	OTHER	Child
	Isolated Bilateral Complete Cryptophthalmos.
	Farooqui JH, Thien Ha TH, Gomaa A. Nepal J Ophthalmol. 2016;8(16):186-188.
	Although cryptophthalmos, as a part of Fraser syndrome, has been reported many times, isolated cryptophthalmos without systemic associations is very rare.
26384833	FEMALE	Child
	Fraser syndrome with laryngeal webs: Report of two cases and a review of the literature.
	Izadi F, Ahmadi A, Zobairy H, Bakhti S, Hirbod H, Safdarian M. Int J Pediatr Otorhinolaryngol. 2015;79(11):1959-62.
	Fraser syndrome is a rare genetic disorder characterized by cryptophthalmos, syndactyly and laryngeal atresia.
26552811 (4640198)	FEMALE	Infant, Newborn
	Prenatal diagnosis of Fraser syndrome: a matter of life or death?
	De Bernardo G, Giordano M, Di Toro A, Sordino D, De Brasi D. Ital J Pediatr. 2015;41:86.
	The prenatal ultrasound can reveal features like polyhydramnios or oligohydramnios, echogenic lungs, renal abnormalities or agenesis and cryptophthalmos that are pathognomonic of the Fraser Syndrome.
23473829	FEMALE
	Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.
	Hoefele J, Wilhelm C, Schiesser M, Mack R, Heinrich U, Weber LT, Biskup S, Daumer-Haas C, Klein HG, Rost I. Gene. 2013;520(2):194-7.
	Fraser syndrome (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and oral clefting, mental retardation, syndactyly, and urogenital defects.
22510445	MIXED_SAMPLE
	Mutations in GRIP1 cause Fraser syndrome.
	Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM. J Med Genet. 2012;49(5):303-6.
	Fraser syndrome (FS) is a autosomal recessive malformation syndrome characterised by cryptophthalmos, syndactyly and urogenital defects.
18083592	FEMALE	Infant
	Bilateral orbito-palpebral cysts in a case of cryptophthalmos associated with Fraser syndrome.
	Mocan MC, Ozgen B, Irkec M. J AAPOS. 2008;12(2):210-1.
	Bilateral orbito-palpebral cysts in a case of cryptophthalmos associated with Fraser syndrome.
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.
18516432	FEMALE	Infant
	[Fraser syndrome: case report].
	Saraceno J, Lopes T, Pinheiro RH, Lima HC, Chaves AP. Arq Bras Oftalmol. 2008;71(2):269-72.
	Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities.
17546704	FEMALE	Infant, Newborn
	Intrafamilial variability in Fraser syndrome.
	Prasun P, Pradhan M, Goel H. Prenat Diagn. 2007;27(8):778-82.
	Fraser syndrome (OMIM 219000) is a rare, autosomal recessive disorder characterized by cryptophthalmos, cutanaeous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies.
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.
	We have screened two patients who fulfilled the diagnostic criteria for Fraser syndrome and three patients with related phenotypes (two patients with Manitoba oculotrichoanal syndrome and one patient with unilateral cryptophthalmos and labial fusion) for mutations in FRAS1 to increase the molecular genetic data in patients with Fraser syndrome and related conditions.
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.
	We have screened two patients who fulfilled the diagnostic criteria for Fraser syndrome and three patients with related phenotypes (two patients with Manitoba oculotrichoanal syndrome and one patient with unilateral cryptophthalmos and labial fusion) for mutations in FRAS1 to increase the molecular genetic data in patients with Fraser syndrome and related conditions.
16523162	MALE	Infant, Newborn
	[Fraser syndrome. A case report].
	Allali B, Hamdani M, Lamari H, Rais L, Benhaddou M, Kettani A, Lahbil D, Amraoui A, Zaghloul K. J Fr Ophtalmol. 2006;29(2):184-7.
	Fraser syndrome is a rare autosomal recessive disorder; the most consistent features are cryptophthalmos, syndactyly of fingers and toes, laryngeal stenosis, and urogenital abnormalities.
16352480	FEMALE	Infant, Newborn
	Bilateral complete isolated cryptophthalmos: a case report.
	Egier D, Orton R, Allen L, Siu VM. Ophthalmic Genet. 2005;26(4):185-9.
	Cryptophthalmos is a condition of congenital eyelid malformation most commonly accompanied by syndactyly, urogenital anomalies, and cognitive impairments as in Fraser syndrome.