Pfeiffer syndrome type 1
Findings
No curated finding names Pfeiffer syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.
Definition from the Mondo Disease Ontology (MONDO:0019659), read 2026-09-29. CC BY 4.0.
Features
21 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 thumbHPOHP:0009601
- Very frequent (80% to 99% of cases)
- Bicoronal synostosisHPOHP:0011318
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Broad hallux phalanxHPOHP:0010059
- Very frequent (80% to 99% of cases)
- Broad thumbHPOHP:0011304
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- 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)
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
- Short halluxHPOHP:0010109
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- Frequent (30% to 79% of cases)
- Short footHPOHP:0001773
- Frequent (30% to 79% of cases)
- Short palmHPOHP:0004279
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
Where it sits
- A kind of
Other names
1 name
Resolves to: Pfeiffer syndrome type 1
- Also called
- classic Pfeiffer syndrome