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  • Wrong UID 1053128

Fraser syndrome 1(FRASRS1)

MedGen UID:
1639061
Concept ID:
C4551480
Disease or Syndrome
Synonyms: CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS; FRAS1-Related Fraser Syndrome; FRASRS1
 
FRAS1 (4q21.21)
 
Monarch Initiative: MONDO:0054737
OMIM®: 219000

Definition

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations. [from OMIM]

Additional description

From MedlinePlus Genetics
Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the genitalia and the urinary tract (genitourinary anomalies). Other tissues and organs can also be affected. Depending on the severity of the signs and symptoms, Fraser syndrome can be fatal before or shortly after birth; less severely affected individuals can live into childhood or adulthood.

Cryptophthalmos is the most common abnormality in people with Fraser syndrome. Both eyes are usually completely covered by skin, but in some cases, only one eye is covered or one or both eyes are partially covered. In cryptophthalmos, the eyes can also be malformed; for example, the eyeballs may be fused to the skin covering them, or they may be small (microphthalmia) or missing (anophthalmia). Eye abnormalities typically lead to impairment or loss of vision in people with Fraser syndrome. Affected individuals can have other problems related to abnormal eye development, including missing eyebrows or eyelashes or a patch of hair extending from the side hairline to the eyebrow.

Cutaneous syndactyly typically occurs in both the hands and the feet in Fraser syndrome. In most people with this feature, the skin between the middle three fingers and toes are fused, but the other digits can also be involved. Other abnormalities of the hands and feet can occur in people with Fraser syndrome.

Individuals with Fraser syndrome can have abnormalities of the genitalia, such as an enlarged clitoris in females or undescended testes (cryptorchidism) in males. Some affected individuals have external genitalia that do not appear clearly female or male.

The most common urinary tract abnormality in Fraser syndrome is the absence of one or both kidneys (renal agenesis). Affected individuals can have other kidney problems or abnormalities of the bladder and other parts of the urinary tract.

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. Some affected individuals have facial abnormalities, including ear or nose abnormalities or an opening in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).  https://medlineplus.gov/genetics/condition/fraser-syndrome

Clinical features

From HPO

Professional guidelines

PubMed

Lear SA, Gasevic D
Nutrients 2019 Dec 19;12(1) doi: 10.3390/nu12010015. PMID: 31861719Free PMC Article
Chellapandian D, Das R, Zelley K, Wiener SJ, Zhao H, Teachey DT, Nichols KE; EBV-HLH Rituximab Study Group
Br J Haematol 2013 Aug;162(3):376-82. Epub 2013 May 21 doi: 10.1111/bjh.12386. PMID: 23692048Free PMC Article
Hacking D, Watkins A, Fraser S, Wolfe R, Nolan T
Arch Dis Child Fetal Neonatal Ed 2001 Jul;85(1):F77-8. doi: 10.1136/fn.85.1.f75g. PMID: 11455946Free PMC Article

Recent clinical studies

Clinical prediction guides

Gowans LJJ, Al Dhaheri N, Li M, Busch T, Obiri-Yeboah S, Oti AA, Sabbah DK, Arthur FKN, Awotoye WO, Alade AA, Twumasi P, Agbenorku P, Plange-Rhule G, Naicker T, Donkor P, Murray JC, Sobreira NLM, Butali A
Mol Genet Genomic Med 2021 Apr;9(4):e1655. Epub 2021 Mar 14 doi: 10.1002/mgg3.1655. PMID: 33719213Free PMC Article

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