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Disease Profile

Crouzon syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Infancy

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ICD-10

Q75.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Craniofacial dysostosis type 1; CFD1; Crouzon craniofacial dysostosis;

Categories

Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases

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]

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.

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
Abnormal nasopharynx morphology
0001739
Abnormality of the cervical spine
Abnormal cervical spine
0003319
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
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

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

    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.

      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

        Social Networking Websites

          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.

              References

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

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