Table 2.

Fryns Syndrome: Frequency of Select Features

FeatureProportion of Persons w/FeatureComment
Persons w/a clinical diagnosis of Fryns syndrome 1Persons w/biallelic PIGN pathogenic variants 2
Polyhydramnios56%6/10
Diaphragmatic hernia>90%7/10
Structural brain malformations88%3/10
Ocular anomalies>6% 32/6
Cardiac anomalies>40% 36/10
Gastrointestinal anomalies>15% 3Not established
Genitourinary anomalies>25% 35/10
Dysmorphic features>55% 38/10
Distal digital hypoplasia>60% 38/10
Developmental delayUnknown due to poor survivalNAPerinatal death in 10/10 persons w/PIGN pathogenic variants
1.

PIGN testing status is not known for these individuals.

2.
3.

From: Fryns Syndrome

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