Apert syndrome
Findings
No curated finding names Apert syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.
Definition from the Mondo Disease Ontology (MONDO:0007041), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
87 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.
- BrachyturricephalyHPOHP:0000244
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Broad halluxHPOHP:0010055
- 2 of 2 reported patients
- Coronal craniosynostosisHPOHP:0004440
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- CraniosynostosisHPOHP:0001363
- 36 of 36 reported patients
- Very frequent (80% to 99% of cases)
- Cutaneous finger syndactylyHPOHP:0010554
- 2 of 2 reported patients
- Cutaneous syndactyly of toesHPOHP:0010621
- 2 of 2 reported patients
Show the remaining 75
- ProptosisHPOHP:0000520
- 40 of 40 reported patients
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- 37 of 38 reported patients
- Frequent (30% to 79% of cases)
- Dental malocclusionHPOHP:0000689
- 11 of 13 reported patients
- Frequent (30% to 79% of cases)
- AcrobrachycephalyHPOHP:0004487
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
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
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
4 names
Resolves to: Apert syndrome
- Also called
- acrocephalosyndactyly type 1acrocephalosyndactyly type IACS1type I Acrocephalosyndactyly