/Fryns syndrome

Fryns syndrome

Rare Disease

MONDO:0009253

Also Known As

Fryns syndromediaphragmatic hernia-abnormal face-distal limb anomalies syndromeFRNSMoerman Van den Berghe Fryns syndromediaphragmatic hernia, abnormal face, and distal limb anomalies

Definition

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.