How does Fryns syndrome present?

Posted by Specialist Doctor I Dang Thi Ngoc Chuong - Pediatrician - Department of Pediatrics - Neonatology, Vinmec Central Park International General Hospital.

Fryns syndrome is a condition that affects the development of many parts of the body. Symptoms of each patient are different, common symptoms such as underdeveloped diaphragm, underdeveloped fingers and toes, abnormal brain, abnormal heart,...

Fryns syndrome is a condition that affects the development of many parts of the body. Symptoms may vary from patient to patient. Many patients with the syndrome have diaphragmatic defects such as congenital diaphragmatic hernia, perforation on the diaphragmatic surface at birth. This can cause the stomach and intestines to move into the chest, causing pulmonary hypoplasia.
Fryns syndrome is a rare disease that affects both women and men. The prevalence of the disease is the same in both sexes. The cause of this syndrome is currently unknown. However, it is thought to be an autosomal recessive effect, meaning that it takes two copies of a defective gene in both parents for Fryns syndrome to develop.

Common signs and symptoms of Fryns syndrome include:
Underdeveloped lungs leading to shortness of breath Underdeveloped diaphragm Underdeveloped fingers Underdeveloped toes Characteristic facial features Abnormally small eyes Brain Abnormal Heart Abnormal Genital Abnormalities Excessive amniotic fluid.

The methods used in the diagnosis of Fryns syndrome are mainly based on clinical examination and imaging. To diagnose Fryns syndrome, a child must have all of the following 6 distinct features:
Abnormal diaphragm clearly visible on imaging tests Distinctive facial features Abnormal fingers, hands, and feet underdeveloped legs Underdeveloped lungs, tendency to have difficulty breathing Defects in either urinary or digestive systems.

Currently, there is no cure for Fryns syndrome, patients will be treated for symptoms. Underdeveloped diaphragm and lungs can be considered surgically.
Some abnormalities caused by this condition are potentially life-threatening such as abnormalities of the heart, lungs, and diaphragm. These defects should be made after the baby is born or as soon as possible after being diagnosed with Fryns syndrome. The treatment of Fryns syndrome requires the coordination of different specialists, so that the patient's treatment is most comprehensive and effective.
In a nutshell, Fryns syndrome is a rare disease that affects the development of many parts of the body. Symptoms of each patient are different, common symptoms such as underdeveloped diaphragm, abnormal brain, abnormal heart,... Some symptoms can be life-threatening, so the treatment is done as soon as possible.
Periodic health check-ups help to detect diseases early, so that there are treatment plans for optimal results. Currently, Vinmec International General Hospital has general health checkup packages suitable for each age, gender and individual needs of customers with a reasonable price policy.
The patient's examination results will be returned to the home. After receiving the results of the general health examination, if you detect diseases that require intensive examination and treatment, you can use services from other specialties at the Hospital with quality treatment and services. outstanding customer service.