Fraser Syndrome

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Fraser syndrome is an extremely rare mutation that has been previously described for about 150 children. The peculiarity is mainly associated with physical malformations . Many of the children died during or immediately after birth because the larynx and kidney malformations were mostly present.

Main criteria

The diagnosis of the syndrome is made when there are two main criteria and one minor criterion, or one major criterion and four minor criteria:

Secondary criteria, further malformations

Malformations of the auricles and middle ear , lip and palate malformations, malformations of the nose and along the tongue midline, hypertelorism , larynx stenosis , larynx atresia , widely separated pubic bone symphysis, displacement of the navel and nipples , common mesentery , missing or polycystic kidneys , fused labia , Malformations of the genital organs , omphalocele

history

The British human geneticist George R. Fraser first diagnosed this syndrome in 1962. In the following years it was referred to as cryptophthalmos syndrome . Many doctors reported more cases and many studies were done. Since this syndrome is often associated with finger adhesions, it has also been known as cryptophthalmos syndactilia syndrome . Fraser syndrome is also known as Meyer-Schwickerath’s syndrome , Fraser- François syndrome and Ullrich-Feichtiger syndrome .

Victor A. McKusick , who was awarded the Japan Prize in 2008 , named this syndrome as Fraser syndrome in 1966 after its first description .

In 1986 it became known that the cryptophthalmos had occurred several times without further malformations, consequently this was now called isolated cryptophthalmos .

Looking back on 124 case studies recorded in the literature, 86 patients fulfilled the criteria for the cryptophthalmos syndrome , 27 patients for the diagnosis of isolated cryptophthalmos and 11 patients could not be assigned.

description

Fraser syndrome is a rare syndrome that is associated with various physical malformations. Most of the people affected have no cognitive impairments; around 150 case studies have been described worldwide to date.

25 out of 100 of the affected children are stillborn and a further 20 die in the first year of life as a result of the larynx and kidney malformations. Without these malformations, life expectancy is almost as usual. 15 out of 100 of all pairs of parents of a child with Fraser syndrome are blood relatives . In most cases, the malformations of the larynx require a tracheotomy during or immediately after birth. However, this can be closed again after a few years, depending on the type of malformation, provided that the function of the larynx can be surgically restored.

Fraser syndrome can be diagnosed during pregnancy as part of prenatal diagnostics using ultrasound . Often it is noticeable in fine ultrasound , provided z. B. Symptoms of syndactyly and echogenic lungs are present. The echogenic lungs arise u. a. by Larynxatresie , this prevents backflow of continuously forming liquid in the lungs, then the liquid that accumulates; this is also called fetal CHAOS . CHAOS stands for C ongenital H igh A irway O bstruction S yndrome (narrowing of the upper airways). The severity of the disability can not be determined prenatally . Nevertheless, parents in Germany and most other industrialized countries have the choice of terminating the pregnancy for medical reasons.

A group of researchers in London studying this syndrome located the gene for Fraser syndrome in 2004 in region 4q21; the syndrome is autosomal - recessive inherited.

In 2005, the London research group revised the incidence of cognitive disability directly related to Fraser syndrome and plans to remove this criterion from the syndrome description.

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