Crouzon syndrome-acanthosis nigricans syndrome
Findings
No curated finding names Crouzon syndrome-acanthosis nigricans syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).
Definition from the Mondo Disease Ontology (MONDO:0012833), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
29 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.
- Acanthosis nigricansHPOHP:0000956
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- 4 of 4 reported patients
- ProptosisHPOHP:0000520
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 17
- Choanal atresiaHPOHP:0000453
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Frequent (30% to 79% of cases)
- Increased intracranial pressureHPOHP:0002516
- Frequent (30% to 79% of cases)
- Inflammatory abnormality of the eyeHPOHP:0100533
- 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.
- FGFR3HGNC:3690
- Definitive · Ambry Genetics · Autosomal dominant · 2015
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: Crouzon syndrome-acanthosis nigricans syndrome
- Also called
- CANchronic allograft nephropathyChronic kidney allograft nephropathyCrouzon-dermoskeletal syndromeCrouzonodermoskeletal syndrome