Fryns syndrome
Findings
No curated finding names Fryns syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009253), read 2026-09-29. CC BY 4.0.
Features
51 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia/Hypoplasia of the nipplesHPOHP:0006709
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
- Hypoplastic fingernailHPOHP:0001804
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Multicystic kidney dysplasiaHPOHP:0000003
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Pulmonary hypoplasiaHPOHP:0002089
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
Show the remaining 39
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Tented upper lip vermilionHPOHP:0010804
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
- Abnormal cardiac septum morphologyHPOHP:0001671
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PIGNHGNC:8967
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Fryns syndrome
- Also called
- diaphragmatic hernia-abnormal face-distal limb anomalies syndrome