Fryns Syndrome Research Paper

Fryns syndrome is a rare congenital disorder that affects the development of the body and is characterized by coarse facial features, diaphragmatic hernia, pulmonary hypoplasia, distal digital hypoplasia, and other various associated anomalies.. There is a 25 percent risk of recurrence and the prevalence of Fryns is 0.7: 10,000 births in France [2]. It affects 1:15,000 live births [3]. J. P. Fryns first described Fryns syndrome in 1979. It was first described with two still born female siblings. They both presented with coarse facial features, cloudy corneas, a cleft of the soft palate, a small thorax with hypoplastic nipples, proximal insertion of the thumbs, hypoplasia of the terminal phalanges and nails, lung hypoplasia, and congenital diaphragmatic hernias [1].
The etiology is relatively unknown but it is thought to be an autosomal recessive trait. A specific gene has never been
identified however, deletions and duplications of several chromosomal regions have been linked to congenital diaphragmatic hernias and other associated abnormalities with Fryns syndrome [1]. The reason it is thought to be an autosomal recessive trait is that is usually seen in families. More specifically it is more often seen in those who have a consanguineous relationship because the likelihood of the parents with close relation having a similar chromosomal defect is higher.
There are many clinical symptoms that are associated with Fryns syndrome and the severity of the symptoms can vary.
The sign most commonly associated with Fryns is a congenital diaphragmatic hernia. Approximately 89 percent of all cases of Fryns have diaphragmatic hernia in varying degrees of severity [6]. This is where there is a protrusion of associated sign, which is hypoplasia of the lungs. Lung hypoplasia is the underdevelopment of the lungs. In the case of Fryns, the presence of the abdominal contents into the thoracic cavity doe not allows the lungs to develop properly. Other signs that may be present are coarse facial features, hypoplasia of the fingers and nails, Polyhydramnios, cloudy corneas, and various malformations of the brain, cardiovascular system, gastrointestinal tract and the genitalia. The coarse facial features that are usually present are Hypertelorism, a broad and flat nasal bridge, macrostomia, micrognathia, and abnormally low set ears. The brain malformation seen most often is Dandy walker malformation. This affects 50 percent of all cases
[6]. Fryns can be detected as early as 12 weeks with Sonography [5]. Some of the early markers that can be seen sonographically are a cystic hygroma and Polyhydramnios. 3D ultrasound has been proven to be helpful in diagnosing Fryns because it gives added detail to possible facial abnormalities and aid in providing early detection of a diaphragmatic hernia.
The complete diagnosis cannot be made solely based upon ultrasound findings. The diagnosis is usually confirmed at birth based on clinical findings and characteristic features.
If the child is born the treatments vary based on what abnormalities are present. If the syndrome is detected before viability is reached the offer of termination of the pregnancy may be presented [1].
The prognosis of Fryns is not usually good. The majorities of affected infants are stillborn or die in early neonatal period [2]. Fryns was originally thought to be a lethal syndrome but there are some documented cases of children living through the first year of life. In cases where the child has survived severe developmental delays and intellectual disabilities are common [3].