Genetic diseases

Fraser Syndrome

Syndrome Fraser

Fraser syndrome photo Fraser syndrome - a combination of Cryptophthalmos with urogenital anomalies and akrofatsialnymi.For the first time the syndrome was described by S. Fraser in 1962.The frequency of this anomaly is 4 cases per 1 million infants and 1 in 10,000 stillbirths.Type of inheritance of the disease autosomal recessive, as this type of abnormality found in children who are born to closely related marriages (with the risk of recurrence reserves of about 25%)

Cryptophthalmos - the absence or hypoplasia of the eyeball, which is often combined with a lack ofeye slits and eyelids

Symptoms and signs of the syndrome Fraser

The presence of the child syndrome Fraser indicate four main clinical signs: abnormal development of reproductive organs (hypertrophy of the clitoris, atresia of the vagina, two-horned uterus, cryptorchidism, hypospadias), syndactyly, Cryptophthalmos andthe presence of these disorders in blood sisters or brothers.Additional signs indicating the presence of this synd

rome include: cleft mouth, violation of the structure of the ears, nose, throat;mental retardation, skeletal abnormalities, unilateral or bilateral renal agenesis, umbilical hernia.In some cases this syndrome may occur defects in the tear duct, a violation of the location of nipples and navel rings, hypertelorism, median facial cleft defects of the middle ear, atresia of the external auditory canal atresia or stenosis of the larynx, atresia of the anus, the underdevelopment of the mesentery of the small intestine


Diagnosis Syndrome Fraser set prenatally based on the revealed combined microphthalmia, syndactyly, obstructive uropathy and obstruction of airways of the lungs, which developed as a result of ascites, water scarcity, atresia of the larynx and fetal hydrops

differential diagnosis

hyperechoic lungsatresia may occur when the bronchi and trachea, lung sequestration, adenomatous - cystic lung vice third type, and diaphragmatic hernia.The differential diagnosis is carried out with alobarnoy Cryptophthalmos holoprosencephaly, which is easy enough to be distinguished based on a simple form of hydrocephalus, were observed in fetal syndrome Fraser.

When renal agenesis and atresia larynx life prognosis fatal.In cases where the main feature of Fraser syndrome is Cryptophthalmos, even in the rare cases of possible surgical correction it remains very low visual acuity.

Obstetric Management of timely prenatal diagnosis of this defect depends on the presence of the dominant anomalies.In the presence of fetal atresia larynx or agenesis of the kidneys may be recommended abortion.

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