Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Fraser syndrome

Fraser syndrome is an autosomal recessive disorder caused by mutations of the genes FRAS1, GRIP1, and FREM2. It is characterized by syndactyly and cryptophthalmos.

Systematic

Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
Aplasia of lacrimal and salivary glands
Autosomal dominant Robinow syndrome 1
Autosomal recessive Robinow syndrome
BMP7
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootorenal dysplasia
CHARGE syndrome
CHD1L
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Fraser syndrome
FRAS1
FREM2
GRIP1
Frasier syndrome
Goldberg-Shprintzen syndrome
IVIC syndrome
Ivemark syndrome
Kabuki syndrome
Lacrimoauriculodentodigital syndrome
Mowat-Wilson syndrome
Papillorenal syndrome
Renal cysts and diabetes (RCAD)
Renal dysplasia with hypopituitarism and diabetes
Renal hypodysplasia/aplasia
Renal tubular dysgenesis
SERKAL syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Somatic nephroblastoma
Susceptibility to cystic renal dysplasia
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome

References:

1.

Takamiya K et al. (2004) A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.

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2.

Kiyozumi D et al. (2006) Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.

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3.

Vogel MJ et al. (2012) Mutations in GRIP1 cause Fraser syndrome.

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4.

Darling S et al. (1994) A mouse model for Fraser syndrome?

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5.

McGregor L et al. (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

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6.

Vrontou S et al. (2003) Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.

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7.

Slavotinek A et al. (2006) Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

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8.

Cavalcanti DP et al. (2007) Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.

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9.

van Haelst MM et al. (2008) Molecular study of 33 families with Fraser syndrome new data and mutation review.

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10.

Jadeja S et al. (2005) Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

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11.

Shafeghati Y et al. (2008) Fraser syndrome due to homozygosity for a splice site mutation of FREM2.

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12.

Ramsing M et al. (1990) Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn.

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13.

None (1990) Fraser syndrome and mouse 'bleb' mutants.

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14.

Schauer GM et al. (1990) Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks.

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15.

Francannet C et al. (1990) Fraser syndrome with renal agenesis in two consanguineous Turkish families.

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16.

Serville F et al. (1989) Fraser syndrome: prenatal ultrasonic detection.

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17.

Boyd PA et al. (1988) Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings.

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18.

Greenberg F et al. (1986) Gonadal dysgenesis and gonadoblastoma in situ in a female with Fraser (cryptophthalmos) syndrome.

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19.

Koenig R et al. (1986) Cryptophthalmos--syndactyly syndrome without cryptophthalmos.

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20.

Thomas IT et al. (1986) Isolated and syndromic cryptophthalmos.

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21.

None (1986) Cryptophthalmos-syndactyly syndrome without cryptophthalmos.

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22.

Gattuso J et al. (1987) The clinical spectrum of the Fraser syndrome: report of three new cases and review.

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23.

Bialer MG et al. (1988) Syndromic cryptophthalmos.

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24.

Mortimer G et al. (1985) Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis.

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25.

Ide CH et al. (1969) Multiple congenital abnormalities associated with cryptophthalmia.

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26.

Azevêdo ES et al. (1973) Cryptophthalmos in two families from Bahia, Brazil.

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27.

None (1969) [Malformative syndrome with cryptophthalmos].

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28.

Codère F et al. (1981) Cryptophthalmos syndrome with bilateral renal agenesis.

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29.

Lurie IW et al. (1984) Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome.

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30.

Burn J et al. (1982) Fraser syndrome presenting as bilateral renal agenesis in three sibs.

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31.

Stevens CA et al. (1994) Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome.

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32.

Pankau R et al. (1994) Fraser (Cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids.

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33.

Andiran F et al. (1999) Fraser syndrome associated with anterior urethral atresia.

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34.

Elçioglu HN et al. (2000) Fraser syndrome: diagnosed in a 50-year-old museum specimen.

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35.

Slavotinek AM et al. (2002) Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.

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36.

van Haelst MM et al. (2007) Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.

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37.

Gupta SP et al. (1962) CRYPTOPHTHALMOS.

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38.

Orphanet article

Orphanet ID 2052 [^]
39.

OMIM.ORG article

Omim 219000 [^]
40.

Wikipedia article

Wikipedia EN (Fraser_syndrome) [^]
Update: April 29, 2019