What causes Fraser syndrome?

Causes. Fraser syndrome is caused by changes (mutations) in the FRAS1, FREM1, FREM2 or GRIP1 genes). More specifically, Fraser syndrome 1 (FRASRS1) is caused by mutations in the Fraser extracellular matrix complex subunit 1 (FRAS1) gene.

Can Fraser syndrome be detected before birth?

Conclusions. The prenatal diagnosis of Fraser Syndrome is frequently possible. The prenatal ultrasound can reveal features like polyhydramnios or oligohydramnios, echogenic lungs, renal abnormalities or agenesis and cryptophthalmos that are pathognomonic of the Fraser Syndrome.

Who discovered Fraser syndrome?

George Fraser first reported two siblings with features of this autosomal recessive syndrome in 1962 [1]. A review of 124 cases of cryptophthalmos [2] led to the definition of the major and minor diagnostic criteria for Fraser syndrome (Table 1).

How long do people live with Fraser syndrome?

Fraser syndrome is an autosomal recessive disorder in which the life expectancy is <1 year. The main features are cryptophthalmos, ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital system, lungs, liver and central nervous system (CNS).

Can someone with Fraser syndrome see?

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.

How long do you live with Fraser syndrome?

What affects the larynx of babies with Fraser syndrome?

Since the larynx is one of the parts with membrane fusion, this syndrome may also affect the larynx and especially the vocal folds. This laryngeal disorder can cause for respiration and vocalization.

How is Fraser syndrome diagnosed?

The prenatal diagnosis of Fraser Syndrome is frequently possible. The prenatal ultrasound can reveal features like polyhydramnios or oligohydramnios, echogenic lungs, renal abnormalities or agenesis and cryptophthalmos that are pathognomonic of the Fraser Syndrome.