Pfeiffer syndrome type 2
Findings
No curated finding names Pfeiffer syndrome type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0019660), read 2026-09-29. CC BY 4.0.
Features
35 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.
- Broad hallux phalanxHPOHP:0010059
- Very frequent (80% to 99% of cases)
- Broad thumbHPOHP:0011304
- Very frequent (80% to 99% of cases)
- Chiari malformationHPOHP:0002308
- Very frequent (80% to 99% of cases)
- Cloverleaf skullHPOHP:0002676
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Deviation of the thumbHPOHP:0009603
- Very frequent (80% to 99% of cases)
- Hallux varusHPOHP:0008080
- Very frequent (80% to 99% of cases)
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
Show the remaining 23
- ProptosisHPOHP:0000520
- Very frequent (80% to 99% of cases)
- Respiratory distressHPOHP:0002098
- Very frequent (80% to 99% of cases)
- Short halluxHPOHP:0010109
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Aqueductal stenosisHPOHP:0002410
- Frequent (30% to 79% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- 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.
- FGFR2HGNC:3689
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of