Fryns syndrome is a rare and serious multiple congenital anomaly syndrome characterized by a specific set of birth defects.
Key Characteristics of Fryns Syndrome
Based on available information, Fryns syndrome is defined by the following:
- Congenital Diaphragmatic Hernia (CDH) and Pulmonary Hypoplasia: This involves a defect in the diaphragm (the muscle separating the chest and abdomen), leading to abdominal organs pushing into the chest cavity and underdeveloped lungs.
- Distal Limb Hypoplasia: Underdevelopment of the hands and feet.
- Facial Anomalies: Unusual facial features.
- Variable Expression of Additional Birth Defects: The syndrome can manifest with a range of other defects, varying from case to case.
In summary, Fryns syndrome is a complex condition involving multiple organ systems and a range of potential complications.
