释义 |
Fryns syndrome
Fryns syndromeA rare autosomal dominant disorder characterized by diaphragmatic hernia and facial, limb, cardiac, lung, and brain anomalies. The disease is often fatal in infancy; survivors may have cognitive deficits. Fryns, J.P., Belgian physician. Fryns syndrome - genetic disorder resulting in limb abnormalities and pulmonary defects.AcronymsSeeFRNS |