How is Crouzon syndrome inherited?

Crouzon syndrome follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How rare is Crouzon syndrome?

Crouzon syndrome is classified as rare. The estimated prevalence is approximately 1-9 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Crouzon syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Crouzon syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from Crouzon syndrome?

Crouzon syndrome can lead to complications due to the early fusion of skull bones, which may affect brain development and pressure inside the skull. Additionally, facial hypoplasia can cause issues with vision, hearing, and dental alignment. Regular check-ups with specialists are important to monitor these potential complications.

How does Crouzon syndrome affect daily life for individuals?

Individuals with Crouzon syndrome may face challenges related to their unique facial features and head shape. This can impact social interactions and self-esteem. Support from family, friends, and possibly counseling can help individuals cope with these daily life impacts.

What is the life expectancy for someone with Crouzon syndrome?

Information about life expectancy for individuals with Crouzon syndrome is currently limited. However, many people with this condition can lead fulfilling lives with proper medical care and support. It's important to work closely with healthcare providers to manage any health issues that may arise.

What specialists should we consult for Crouzon syndrome?

For Crouzon syndrome, it is important to consult specialists such as a geneticist, a craniofacial surgeon, and possibly an ophthalmologist for eye-related issues. These experts can help manage the various aspects of the condition and provide the best care for individuals affected by Crouzon syndrome.

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Crouzon syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Crouzon syndrome

MONDO:0007405

Also known as:Crouzon craniofacial dysostosiscraniofacial dysostosisCfd1

Find Clinical TrialsTrials

Overview

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

GeneticsAutosomal dominant · FGFR2 (chr 10)

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Coronal craniosynostosis and Deviated nasal septum; and very common findings: Dental crowding, High palate, Frontal bossing, and High forehead and others. 50 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	10	Lambdoidal craniosynostosis, Sagittal craniosynostosis, Coronal craniosynostosis

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FGFR2 encodes fibroblast growth factor receptor 2 (821 aa). Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Highest expression in Brain Spinal cord cervical c-1 (130.1 TPM) and Uterus (43.5 TPM).

Crouzon syndrome is caused by mutations in the FGFR2 gene on chromosome 10.

The FGFR2 protein participates in Signaling by FGFR2 and Signaling by FGFR2 in disease pathways.

FGFR2 is classified as a druggable target (Cell Surface, Clinically Actionable, Druggable Genome, Kinase, and Tyrosine Kinase categories) with score 2.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Consensus clinical diagnostic criteria for Apert syndrome have not been published.

Suggestive Findings

Apert syndrome should be suspected in individuals with the following clinical features.

Head

Multisuture craniosynostosis, most commonly involving bilateral coronal sutures with variable involvement of the remaining cranial sutures

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Crouzon syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Apert syndrome, the evaluations summarized (if not already performed) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Apert Syndrome

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

A craniofacial team made up of the appropriate specialties allows for proper planning and coordination so that the affected individual may receive the best possible care . Ideally, the composition of the multidisciplinary team caring for a child with Apert syndrome should include the following specialists: • Audiologist • Dentist • Dermatologist • Feeding specialist • Geneticist • Neurodevelopmental and behavioral pediatrician • Neurosurgeon • Nurse • Nutritionist • Ophthalmologist • Oral surgeon • Orthodontist • Orthopedist (hand and foot surgery) • Otolaryngologist • Pediatrician • Plastic surgeon • Psychologist • Pulmonologist/ sleep medicine • Social worker • Speech pathologist • Spine surgeon Table 7. Recommended Surveillance for Individuals with Apert Syndrome

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include gene therapy. Research is primarily sponsored by academic and government institutions.

82 publications have been identified in PubMed for Crouzon syndrome. Research spans Basic Science / Preclinical (37%), Case Report / Case Series (26%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Laboratory research	30	37%

Data assembled from 9 of 12 sources · Last updated Sep 19, 2026, 12:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:123500

Orphanet

European rare disease database

Orphanet:207

GARD

Genetic and Rare Diseases Info Center

GARD:6206

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for FGFR2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Crouzon syndrome

Crouzon syndrome is a rare condition characterized by the early fusion of skull bones (craniosynostosis) and underdevelopment of the face (facial hypoplasia). This results in changes to the shape of the head and face, which are hallmarks of the disease. People with Crouzon syndrome may experience distinct facial features and skull shape changes from an early age. Information about other clinical details is limited from the provided sources.

People with Crouzon syndrome show signs of craniosynostosis, which is the early fusion of skull bones, and facial hypoplasia, where the face does not develop fully. Information on additional symptoms is limited.

Crouzon syndrome is a genetic condition. It is linked to changes in the FGFR2 gene. This gene plays a role in bone development, and its alterations can lead to the features seen in this condition. Associated genes include FGFR2.

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GeneReviews

Differential Diagnosis

Most children with multisuture synostosis will have a syndromic form of craniosynostosis. The presence of specific craniofacial characteristics and hand and foot anomalies allow for the clinical diagnosis of Apert syndrome in most cases. Establishing an accurate diagnosis has important implications for screening, surveillance, management, and counseling (see and ). Select syndromes to consider in the differential diagnosis of Apert syndrome include the allelic disorders listed (FGFR2-related Antley-Bixler syndrome, Beare-Stevenson syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome types 1, 2, and 3, FGFR2-related Saethre-Chotzen syndrome) and the select syndromes listed in . Table 3. Nonallelic Craniosynostosis Syndromes to Consider in the Differential Diagnosis of Apert Syndrome

Gene	Disorder	MOI	Features of the Differential Diagnosis Disorder
POR	POR-related Antley-Bixler syndrome1	AR	See .
RAB23	Carpenter syndrome	AD	Craniosynostosis (multisuture, coronal most common); Brachyturricephaly; Maxillary hypoplasia; Obstructive sleep apnea; Hypertelorism; Ocular proptosis
Muenke syndrome	AD	Craniosynostosis (unilateral or bilateral coronal); Mild maxillary hypoplasia; Downslanting palpebral fissures; Cervical spine fusions	Sensorineural hearing loss; Brachydactyly; Carpal-tarsal fusion; Carpal bone malsegregation; Coned epiphyses
FGFR1	FGFR1-related Pfeiffer syndrome types 1, 2, 32	AD	See .
TWIST1	TWIST1-related Saethre-Chotzen syndrome3	AD	See .

Source: GeneReviews — "Apert Syndrome"

System/Concern	Evaluation	Frequency
Oropharynx	Assessment for velopharyngeal insufficiency1,2	After emergence of language Speech assessment to monitor for speech disorders
Dental	Assessments w/primary dentist to caries support dental health3	Every 6 mos
Eyes	Ophthalmologic eval to incl vision, eye alignment, dilated fundoscopy to assess optic nerves4	Annually
Ears	Audiologic otologic assessements	At least annually
Musculoskeletal	Monitor for development of scoliosis by clinical exam w/surveillance spine radiographs if recommended by spine surgeon.	Annually in childhood adolescence
Neurologic	Measurements of head circumference ( fontanelle size, if applicable) to monitor for progressive hydrocephalus	At each appointment in infancy early childhood Assessments for intracranial pressure5,6 Eval by craniofacial team
Cognition	Assessment of developmental progress	At each visit 1. For those with cleft palate 2.

Kisho

Crouzon syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Crouzon syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Crouzon syndrome?

What are the symptoms of Crouzon syndrome?

What causes Crouzon syndrome?

How is Crouzon syndrome inherited?

How rare is Crouzon syndrome?

How is Crouzon syndrome diagnosed?

Are there treatments for Crouzon syndrome?

What complications can arise from Crouzon syndrome?

How does Crouzon syndrome affect daily life for individuals?

What is the life expectancy for someone with Crouzon syndrome?

What specialists should we consult for Crouzon syndrome?

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications