Fraser Syndrome 1

Alternative Names

  • FRASRS1
  • Fraser Syndrome
  • Cryptophthalmos with Other Malformations
  • Cryptophthalmos-Syndactyly Syndrome

Associated Genes

FRAS1 Gene
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

219000

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4q21.21

Description

Fraser syndrome is a rare congenital disorder characterized by cryptophthalmos and syndactyly. Ophthalmic features are quite common among affected individuals, such as lack of palpebral fissures with severe microphthalmia or anophthalmia, and absent or malformed lacrymal ducts. In addition to syndactyly, Fraser syndrome can involve severe malformations affecting the urinary system (e.g. renal agenesis or hypoplasia), larynx (stenosis, atresia), ears, palate, nose, tongue, and reproductive organs. This syndrome is not usually associated with intellectual impairment and it is most common in families with a history of consanguinity.

Mutations in the FRAS1 gene is associated with Fraser syndrome 1. Fraser syndrome 2 and Fraser syndrome 3 are caused by mutations in FREM2 gene and GRIP1 gene, respectively.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
219000.1United Arab EmiratesUnknownNoYes Cutaneous syndactyly; Cryptophthalmos; A...NM_025074.7:c.9524A>CHomozygousAutosomal, Recessivevan Haelst et al. 2008 'Family 23' in the p...
219000.GLebanonYesYes Cryptophthalmos; Syndactyly; Abnormality...NM_025074.6:c.3799C>THomozygousAutosomal, Recessivevan Haelst et al. 2008; McGregor et al. 2003 4 male patients and ...

Other Reports

Saudi Arabia

The first report of bladder pseudoexstrophy in association with Fraser Sydrome was made by Daia (2001). The case was a 1-year old girl with the typical features of Fraser Syndrome, including cryptophthalmos and depressed broad nasal bridge, sydactyly of both hands and feet, and laryngeal stenosis. In addition, the patient had multiple urogenital abnormalities, including clitorimegaly and left renal agenesis. She also showed certain skeletal and abdominal wall abnormalities that are usually associated with a bladder extrophy, such as a herniated bladder, a low-set umbilicus, and separated pubic bones. However, the bladder was intact, prompting Daia (2001) to term it a pseudoexstrophy.

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