Fryns syndrome

Fryns syndrome: Description, Causes and Risk Factors: Fryns syndromeFryns syndrome is a rare autosomal recessive disorder, with an estimated prevalence is 0.7 per 10,000 births. The syndrome, first described by Fryns in 1979, is characterized by dysmorphic facial features, diaphragmatic hernia, distal limb hypoplasia, and pulmonary hypoplasia. Though the cause of this syndrome is unknown Fryn's syndrome is suspected to be genetic in origin. However, certain chromosomal abnormalities have been described, including mosaicism for a tandem duplication of chromosome 1q24-q31.2, ring chromosome 15, terminal deletion of chromosome 6 q, and trisomy 22. For a child to inherit this disorder, he should receive one copy each of the mutated gene from each parent. Individuals who receive only one mutated gene from either parent are carriers of the syndrome without suffering from the syndrome themselves. About 80 cases of Fryns syndrome have been reported in medical literature. Fryns syndrome occurs in males and females, and has no specific ethnic group association. Symptoms: Patients with Fryns syndrome have certain craniofacialfeatures, including coarse facial features,hypertelorism,facial hair overgrowth, a broad flat nasal bridge, anteverted nares, microretrognathia,and cleft lip and palate Signs: Congenital diaphragmatic hernia: The hole in the diaphragm separating the abdominal and thoracic cavities. The abdominal organs like the intestines and stomach move into the chest cavity and crowd the lungs. The lungs do not form fully in the infant. After birth the infant faces respiratory distress which may be fatal.
  • Underdeveloped fingers and toes. Short and stubby digits may be absent.
  • Short or absence of nails.
  • Distinctive facial features including widely spaced protuberant eyes, broad nasal bridge, extra space between nose and upper lip, largemouth and small chin.
  • Ears are low set and abnormally shaped.
  • Clouding of the cornea and impaired vision.
  • Distinctive facial features such as widely spaced eyes.
  • Flat nose bridge.
  • Small chin.
  • Hole in the soft palate of the mouth.
  • Nasal tip is thick.
  • Impaired development of the respiratory, cardiovascular and renal systems.
  • Abnormal genitalia.
Diagnosis: For a case to be diagnosed as a case of Fryn's syndrome, three of the following six symptom groups should be present: Diaphragmatic defect.
  • Facial characteristics.
  • Typical stubby appearance of digits.
  • Pulmonary hypoplasia.
  • Cloudy corneas.
  • Cleft palate.
  • Brain malformation.
  • Cardiovascular malformation.
  • Renal cysts.
  • Genital malformation.
Treatment: Treatment for this disorder is multidisciplinary in approach. The primary line of treatment is to immediately alleviate the respiratory distress. Respiratory support should be provided to the newborn immediately to prevent fatality. Children affected by Fryn's syndrome may have feeding problems due to malformation of the mouth and palate. Insertion of feeding tube is an emergency measure taken immediately after birth. The more serious complications including renal and cardiovascular malfunctions would need extensive surgery and treatment. There have been very few cases of Fryn's syndrome infants surviving past 12 months of age. The survivors have displayed a marked degree on intellectual impairment as well. NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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