Fryns syndrome
Overview
Fryns Syndrome: A rare genetic disorder characterized by diaphragmatic abnormalities, coarse face and abnormal growth or development of ends of fingers and toes.
Symptoms
Coarse face Abnormal ear shape Cleft lip Cleft palate Large mouth
Diagnosis
Prenatal diagnosis has been possible in several fetuses by use of ultrasound to identify in one fetus fetal hydrops, diaphragmatic hernia, and dilation of the cerebral ventricles and in another with cystic hygroma and diaphragmatic hernia. These anomalies themselves can be isolated or as a part of another genetic syndrome; it is the specific combination of anomalies that would lead one to suspect Fryns syndrome. Definitive diagnosis is not possible until after birth or autopsy.
Prognosis
Unfortunately, the prognosis for babies with Fryns syndrome is poor, with usual neonatal death occurring due to the lung hyperplasia and respiratory distress or other anomalies. Approximately 14% of infants survive the neonatal period. Survivors typically do not have complex heart malformations and less frequently have diaphragmatic hernias, milder lung hypoplasia, and neurologic impairment (usually severe to profound mental retardation with serious brain malformations
Treatment
Since Fryns syndrome is a genetic disease, caused by mutations in specific genes, there is no cure at this time. Some of the anomalies may be amenable to surgery, such as diaphragmatic hernia or cleft palate, but the entire prognosis for the baby must be considered. Special education for mentally retarded individuals is indicated if the child survives.