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Posted by Specialist Doctor I Dang Thi Ngoc Chuong - Pediatrician - Department of Pediatrics - Neonatology, Vinmec Central Park International General Hospital.Fraser syndrome is a genetic disorder that affects 1 in 200,000 newborns. Although it is a rare syndrome, if the fetus gets it, it will seriously affect the development and life expectancy of the child.
1. Overview of Fraser .'s syndrome
Fraser Syndrome (Fraser Syndrome) is a rare genetic disorder that presents with problems during a child's development such as: Improper development (dysplasia): partial adhesions, kidney defects , genital malformations, malformations of the eyes; underdevelopment (underdevelopment); abnormal kidney (single kidney aplasia or both).Fraser syndrome is uncommon but can affect both men and women equally.
For men: 1 or both testicles may not descend into the scrotum (ectopic testicle), the location of the urethral opening on the underside of the penis (low opening of the urethra) or the penis may be small abnormal. For women: altered fallopian tubes, abnormally large clitoris, heart-shaped bifurcation, abnormal fusion of skin folds on either side of the vaginal opening (labia). For infants and children: Fraser syndrome can cause additional abnormalities such as a middle ear defect or an outer ear defect causing hearing loss, kidney abnormalities (lack of one or both kidneys), one eye, or both. Both eyes are covered with skin causing blindness. Depending on the severity of the deformities and complications, Fraser syndrome can be fatal before or shortly after birth; However, there are cases where more severely affected patients can still live into childhood or adulthood.
Hội chứng Fraser là một rối loạn về di truyền gây ra dị tật bẩm sinh ở trẻ
2. Causes of Fraser . syndrome
Most babies with Fraser syndrome have inherited an autosomal recessive trait from one parent. The altered genes are usually located on the long arm of chromosome 4 (4q21). These genes are commonly found in the nucleus of human cells, which have genetic information for everyone.Inherited autosomal recessive disorders are the main cause of Fraser syndrome.
3. Fraser . syndrome symptoms
When suffering from Fraser syndrome, patients may experience characteristic signs and symptoms such as: webbed fingers, partial or complete adhesions. However, depending on the situation and the extent, the child will show other signs that can be observed directly or through imaging such as:Eyelid malformation: the complete fusion of the eyelids causing the condition. blindness (Cryptophthalmos). Abnormal kidney: missing one or both kidneys causes kidney problems or abnormalities of the bladder and other parts of the urinary tract. Hair grows from the forehead to the eyebrows; eyebrows or eyelashes fall out. Genitourinary anomalies: Wide gap between nipples, abnormally large/small or incomplete genitalia, urinary tract abnormalities. In addition to the above signs, patients with Fraser syndrome may still experience symptoms that are not mentioned because of their uncommonness. Therefore, if the newborn has abnormalities in appearance or physical appearance, it is necessary to contact a specialist for timely diagnosis and treatment.
Hình ảnh hội chứng Fraser gây dị tật đường mí mắt ở trẻ
4. Diagnosis and treatment
The diagnosis of Fraser syndrome is made based on physical examination and medical history. In particular, if the patient has a family history of Fraser syndrome, the diagnosis is well established with the above-mentioned malformations or can also be confirmed by early pregnancy screening in women. female. Genetic counseling will benefit parents of children affected by Fraser syndrome.Treatment of Fraser syndrome requires surgery to correct the physical deformities. Your doctor may recommend surgery depending on the condition and extent of the deformity caused by Fraser syndrome. However, it should be noted that because it is a genetic disorder, it is impossible to completely treat the disease.
The goal of treatment is to improve the condition, control symptoms, and correct physical abnormalities that cause inconvenience to the patient. Besides, other treatments will play a supportive role to improve the condition better.
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