Fraser Syndrome

Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.

Also Known As:

Networked: 45 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Polycystic Kidney Diseases (Polycystic Kidney Disease)
2.	Syndactyly (Polysyndactyly)
3.	Blister (Bulla)
4.	CHARGE Syndrome
5.	Disorders of Sex Development (Intersexuality)

Experts

1.	Chalepakis, Georges: 5 articles (04/2011 - 05/2005)
2.	Smyth, Ian: 4 articles (11/2013 - 05/2005)
3.	Woolf, Adrian S: 3 articles (11/2012 - 05/2005)
4.	Scambler, Peter J: 3 articles (11/2012 - 05/2005)
5.	Sekiguchi, Kiyotoshi: 3 articles (05/2012 - 08/2006)
6.	Kiyozumi, Daiji: 3 articles (05/2012 - 08/2006)
7.	Pavlakis, Evangelos: 3 articles (04/2011 - 10/2007)
8.	Zenker, Martin: 2 articles (12/2013 - 02/2007)
9.	Wiradjaja, Fenny: 2 articles (11/2013 - 07/2007)
10.	Pitera, Jolanta E: 2 articles (11/2012 - 05/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Fraser Syndrome:

1.	Allanson Pantzar McLeod syndromeIBA 09/01/1997 - "A careful and complete study allows us to indicate some genic syndromes such as polycystic kidney disease, Meckel syndrome, familial renal tubular dysgenesis, Vacterl-Hydrocephaly sequence, or Fraser syndrome inducing the genetic counseling and a familial study. "
2.	VACTERL hydrocephalyIBA 09/01/1997 - "A careful and complete study allows us to indicate some genic syndromes such as polycystic kidney disease, Meckel syndrome, familial renal tubular dysgenesis, Vacterl-Hydrocephaly sequence, or Fraser syndrome inducing the genetic counseling and a familial study. "
3.	Hereditary renal agenesisIBA 05/01/2013 - "Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. " 11/01/2012 - "Deficiency of the extracellular matrix molecule FRAS1, normally expressed by the ureteric bud, leads to bilateral renal agenesis in humans with Fraser syndrome and blebbed (Fras1(bl/bl)) mice. " 11/01/2012 - "Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome." 08/01/1990 - "We report on 3 girls and one boy from 2 sibships with Fraser syndrome and renal agenesis. " 08/01/1990 - "Fraser syndrome with renal agenesis in two consanguineous Turkish families."
4.	Proteins (Proteins, Gene)IBA 04/01/2011 - "By focusing on the aforementioned data, in this review we will summarize the current knowledge about Fraser syndrome proteins and describe their contribution to basement membrane biology." 08/08/2006 - "Given the close association of Fraser syndrome phenotypes with defective epidermal-dermal interactions, the coordinated assembly of three Fraser syndrome-associated proteins at the basement membrane appears to be instrumental in epidermal-dermal interactions during morphogenetic processes." 08/08/2006 - "Here, we report that all of these proteins are localized to the basement membrane, and that their basement membrane localization is simultaneously impaired in Fraser syndrome model mice. " 10/01/2008 - "Fras1/Frem family of basement membrane proteins has been associated with the "bleb" phenotype in mouse and the Fraser syndrome in man. " 07/01/2007 - "Inactivation of these proteins, or the proteins with which they interact (e.g., Grip1) has also been shown to underlie members of the 'bleb' family of classic mouse mutants which provide a valuable model of Fraser syndrome. "
5.	Extracellular Matrix ProteinsIBA 01/01/2008 - "The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype." 04/01/2011 - "Recently, a novel group of basement membrane proteins, Fras1 (Fraser syndrome protein (1) and the Fras1-related extracellular matrix proteins Frem1, Frem2 and Frem3, has emerged. " 10/01/2007 - "The Fraser syndrome protein Fras1 and the structurally related proteins Frem1, Frem2 and Frem3 comprise a novel family of extracellular matrix proteins implicated in the structural adhesion of the embryonic epidermis to the underlying mesenchyme. "
6.	Fryns syndromeIBA 08/01/1991 - "A Mendelian disorder was present in 9 cases (eight Fryns syndrome and one Fraser syndrome). " 01/01/2008 - "These included: chromosomal abnormalities (n = 21, 30.0%); non-chromosomal syndromes (Fryns syndrome, fetal alcohol syndrome, De Lange syndrome, CHARGE syndrome, Fraser syndrome, Goldenhar syndrome, Smith-Lemli-Opitz syndrome, multiple pterygium syndrome, Noonan syndrome, and spondylocostal dysostosis); malformation sequences (laterality sequence, ectopia cordis); malformation complexes (limb body wall complex) and non syndromic multiple congenital anomalies (MCA) (n = 30, 42.9%). "
7.	FurinIBA 04/01/2010 - "Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes."
8.	Proto-Oncogene Proteins c-fos (FRAs)IBA 11/01/2013 - "Mutations in members of the FRAS/FREM gene family cause diseases of the Fraser syndrome spectrum. "
9.	Staphylococcal Protein A (A, Protein)IBA 12/01/2013 - "It overlaps clinically with Fraser syndrome (FS; OMIM 219000), which is known to be caused by mutations in either FRAS1, FREM2, or GRIP1, encoding components of a protein complex that plays a role in epidermal-dermal interactions during morphogenetic processes. "
10.	Mitochondrial DNA (mtDNA)IBA 03/01/2005 - "Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome." 03/01/2005 - "We describe a 20-year-old 46,XY woman, with clinical findings of Fraser syndrome and three mitochondrial DNA (mtDNA) mutations of Leber hereditary optic neuropathy. "

Therapies and Procedures

1.	Airway Management 05/01/2005 - "Antenatal diagnostic features of Fraser syndrome and emergency airway management are discussed." 03/01/2004 - "The pertinent features of Fraser syndrome in relation to airway management are discussed."
2.	Resuscitation 05/01/2005 - "Resuscitation failure due to Fraser syndrome in a newborn undiagnosed in the prenatal period."
3.	Hysterectomy 01/01/1995 - "A 16-year-old girl with Fraser syndrome underwent abdominal hysterectomy under general anaesthesia. "
4.	Dental Care 01/01/2014 - "Fraser syndrome-oral manifestations and a dental care protocol."
5.	Decompression 01/01/2006 - "We attempted percutaneous fetoscopic and ultrasound-guided tracheal decompression in a hydropic human fetus with CHAOS associated with Fraser syndrome. " 01/01/2006 - "Fetoscopic and ultrasound-guided decompression of the fetal trachea in a human fetus with Fraser syndrome and congenital high airway obstruction syndrome (CHAOS) from laryngeal atresia."