Crouzon syndrome

Title

Other Names:

Craniofacial dysostosis type 1; CFD1; Crouzon craniofacial dysostosis; Craniofacial dysostosis type 1; CFD1; Crouzon craniofacial dysostosis; Crouzon disease See More

Categories:

Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases

Summary Summary

Crouzon syndrome is a disorder characterized by early fusion of certain skull bones (craniosynostosis). This prevents normal growth of the skull, which can affect the shape of the head and face. Signs and symptoms of Crouzon syndrome may include wide-set, bulging eyes; strabismus (misalignment of the eyes); a small, "beak-shaped" nose; and an underdeveloped upper jaw.^[1]^[2] Other features may include dental problems, hearing loss, and/or cleft lip and palate. The severity of signs and symptoms can vary among affected people, even within a family. Intelligence is usually normal, but intellectual disability may be present.^[1]^[3] Crouzon syndrome is caused by changes (mutations) in the FGFR2 gene and is inherited in an autosomal dominant manner. Treatment may involve surgeries to prevent complications, improve function, and aid in healthy psychosocial development.^[1]^[4]^[2]

Last updated: 6/8/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal facial shape	Unusual facial appearance	0001999
Frontal bossing		0002007
High forehead		0000348
Multiple suture craniosynostosis		0011324
30%-79% of people have these symptoms
Arnold-Chiari malformation		0002308
Brachycephaly	Short and broad skull	0000248
Cerebellar hypoplasia	Small cerebellum Underdeveloped cerebellum [ more ]	0001321
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Conjunctivitis	Pink eye	0000509
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypoplasia of the maxilla	Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper jaw retrusion [ more ]	0000327
Increased intracranial pressure	Rise in pressure inside skull	0002516
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Ptosis	Drooping upper eyelid	0000508
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Turricephaly	Tall shaped skull Tower skull shape [ more ]	0000262
5%-29% of people have these symptoms
Abnormal sacrum morphology		0005107
Acanthosis nigricans	Darkened and thickened skin	0000956
Amblyopia	Lazy eye Wandering eye [ more ]	0000646
Choanal atresia	Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of the nasal cavity [ more ]	0000453
Convex nasal ridge	Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ]	0000444
Headache	Headaches	0002315
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hypopigmented skin patches	Patchy loss of skin color	0001053
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Iris coloboma	Cat eye	0000612
Melanocytic nevus	Beauty mark	0000995
Narrow internal auditory canal		0011386
Narrow palate	Narrow roof of mouth	0000189
Optic atrophy		0000648
Respiratory insufficiency	Respiratory impairment	0002093
Percent of people who have these symptoms is not available through HPO
Abnormality of the cervical spine	Abnormal cervical spine	0003319
Abnormality of the nasopharynx		0001739
Atresia of the external auditory canal	Absent ear canal	0000413
Autosomal dominant inheritance		0000006
Coronal craniosynostosis		0004440
Craniofacial dysostosis		0004439
Dental crowding	Crowded teeth Dental overcrowding Overcrowding of teeth [ more ]	0000678
Dysgerminoma		0100621
Keratitis	Corneal inflammation	0000491
Lambdoidal craniosynostosis		0004443
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Sagittal craniosynostosis	Early closure of midline skull joint Midline skull joint closes early [ more ]	0004442
Seizures	Seizure	0001250
Shallow orbits	Decreased depth of eye sockets Shallow eye sockets [ more ]	0000586
Sleep apnea	Pauses in breathing while sleeping	0010535
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

Crouzon syndrome is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.

There is nothing that either parent can do, before or during a pregnancy, to cause a child to be born with Crouzon syndrome.

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

Last updated: 6/8/2016

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

ACPA Family Services
1504 East Franklin Street, Suite 102
Chapel Hill, NC 27514-2820
Telephone: +1-919-933-9044
Fax: +1-919-933-9604
E-mail: info@acpa-cpf.org
Website: https://cleftline.org/
Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 1-800-535-3643
Telephone: +1-214-570-9099
Fax: +1-214-570-8811
E-mail: contactCCA@ccakids.com
Website: https://ccakids.org/
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: faces@faces-cranio.org
Website: http://www.faces-cranio.org/
Headlines Craniofacial Support
PO Box 13595
LINLITHGOW
EH49 9BD
United Kingdom
Telephone: +44 (0)7500 778965
E-mail: info@headlines.org.uk
Website: http://www.headlines.org.uk/
Let's Face It
University of Michigan School of Dentistry Dentistry Library
1011 North University
Ann Arbor, MI 48109-1078
E-mail: faceit@umich.edu
Website: http://media.dent.umich.edu/faceit/info/
This website does not appear to be actively updated any longer. However the information and resources may be helpful.

Social Networking Websites

Visit the International Crouzon Syndrome Support Group group on Facebook.

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The Children's Craniofacial Association has published the booklet "A Guide to Understanding Crouzon Syndrome" for parents. Click on the link to read the booklet.
Genetics Home Reference (GHR) contains information on Crouzon syndrome. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Crouzon syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I have Crouzon and my mother has it. I have a sister and a brother younger than me that don't have it. Is it possible for either of them to have children with it and what are the chances? See answer
I'm looking into having kids with my spouse. I have Crouzon syndrome and I was wondering if my child is guaranteed to have it. My mom has it but neither of her parents did. I'm very concerned. See answer

Have a question? Contact a GARD Information Specialist.

References References

Crouzon syndrome. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/crouzon-syndrome. Accessed 11/7/2015.
Eric Arnaud, Corinne Collett, Federico Di Rocco. Crouzon diease. Orphanet. November, 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207.
Marla J. F. O'Neill. Crouzon Syndrome. OMIM. March 18, 2016; http://www.omim.org/entry/123500.
Hollier LH. Craniosynostosis syndromes. UpToDate. August 25, 2015; http://www.uptodate.com/contents/craniosynostosis-syndromes. Accessed 11/7/2015.