Fraser syndrome

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Fraser syndrome Classification and external resources
OMIM	219000
DiseasesDB	32241

Fraser syndrome is an autosomal recessive genetic disorder.

1 Eponym
2 Presentation
3 Genetics
4 References

[edit] Eponym

It is named for George Fraser, but it has many other names,^[1] including Meyer-Schwickerath's syndrome, Fraser-François syndrome,^[2] or Ullrich-Feichtiger syndrome.

[edit] Presentation

It is characterized by developmental defects including underdevelopment of the eyes (cryptophthalmos) and the genitals (micropenis, cryptorchidism or clitoromegaly).^[3]

Congenital malformations of the nose, ears,larynx, and renal system as well as mental retardation are manifest occasionally.

[edit] Genetics

Fraser syndrome has an autosomal recessive pattern of inheritance.

The genetic background of this disease has been linked to a gene called FRAS1, which seems to be involved in skin epithelial morphogenesis during early development.^[4]

It has also been associated with FREM2.^[5]

[edit] References

^ synd/2010 at Who Named It
^ Jules François. Syndrome malformatif avec cryptophthalmie. (Note préliminaire.) Ophthalmologica, Basel, 1965, 150: 215.
^ van Haelst MM, Scambler PJ, Hennekam RC (2007). "Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria". Am J Med Genet A. doi:10.1002/ajmg.a.31951. PMID 18000968.
^ Smyth I, Scambler P (2005). "The genetics of Fraser syndrome and the blebs mouse mutants". Hum Mol Genet. 14 Spec No. 2: R269–74. doi:10.1093/hmg/ddi262. PMID 16244325.
^ Jadeja S, Smyth I, Pitera JE, et al (2005). "Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs". Nat. Genet. 37 (5): 520–5. doi:10.1038/ng1549. PMID 15838507.

v • d • e Congenital abnormality - multiple abnormalities (Q87, 759.7)

Facial	Acrocephalosyndactylia (Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) - Mobius syndrome - Goldenhar syndrome - Cyclopia

Short stature	Aarskog-Scott syndrome - Cockayne syndrome - Cornelia de Lange Syndrome - Dubowitz syndrome - Noonan syndrome - Robinow syndrome - Silver-Russell dwarfism - Seckel syndrome - Smith-Lemli-Opitz syndrome

Limbs	Adducted thumb syndrome - Holt-Oram syndrome - Klippel-Trenaunay-Weber syndrome - Nail-patella syndrome - Rubinstein-Taybi syndrome - Sirenomelia - VACTERL association

Overgrowth	Beckwith-Wiedemann syndrome - Sotos syndrome - Weaver syndrome

Collagen	Alport syndrome

Combined/other, known locus	3 (Zimmerman-Laband syndrome) - 4/13 (Fraser syndrome) - 8 (Branchio-oto-renal syndrome) - 11/16 (Bardet-Biedl syndrome) - 12 (Keutel syndrome, Timothy syndrome) - 15 (Marfan syndrome) - 19 (Donohue syndrome)

Combined/other, unknown locus	Ablepharon macrostomia syndrome - Fountain syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zori Stalker Williams syndrome