Rare Pulmonology News

Disease Profile

Cherubism

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.

Unknown

Age of onset

Childhood

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ICD-10

K10.8

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)

CRBM

Categories

Congenital and Genetic Diseases; Immune System Diseases; Mouth Diseases;

Summary

Cherubism is a rare disorder characterized by progressive, painless, bilateral swelling of the jaw during childhood. This fibro-osseous (bone structure) condition is self-limiting, with symptoms typically resolving in adulthood.[1][2][3][4][5][6] Diagnosis is based on a combination of clinical signs, family history, radiographic findings (panoramic x-rays, CT scan), biopsy, and genetic testing.[1][2][4][6] Cherubism is inherited in an autosomal dominant fashion and is caused by mutations in the SH3BP2 gene.[1][2][3][4][5][6] Treatment tends to be conservative (wait-and-see), with surgery reserved for the most severe cases.[3][4][5][6]

Symptoms

Cherubism is characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development.[1][2][3][4][5][6] In some people the condition is very mild and barely noticeable. Other cases are severe enough to cause problems with vision, breathing, speech, and swallowing.[1][4][6] Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone, with complete resolution by the third or fourth decade.[3][4] 

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
Bone cyst
Bone cysts
0012062
Broad jaw
Broad lower face
Wide jaw

[ more ]

0012802
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks

[ more ]

0000293
30%-79% of people have these symptoms
Abnormality of dental morphology
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth

[ more ]

0006482
Oligodontia
Failure of development of more than six teeth
0000677
5%-29% of people have these symptoms
Abnormality of the voice
Voice abnormality
0001608
Feeding difficulties in infancy
0008872
Obstructive sleep apnea
0002870
Optic atrophy
0000648
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive

[ more ]

0000529
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Upper airway obstruction
0002781
1%-4% of people have these symptoms
Childhood onset
Symptoms begin in childhood
0011463
Jaw swelling
0030793
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Lower eyelid retraction
0030802
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
Submandibular lymph node enlargement
0033176
Young adult onset
0011462
Percent of people who have these symptoms is not available through HPO
Alveolar ridge overgrowth
Overgrowth of gum ridge
0009085
Autosomal dominant inheritance
0000006
Constriction of peripheral visual field
Limited peripheral vision
0001133
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches

[ more ]

0000689
Macular scar
0200056
Marcus Gunn pupil
0200057
Multiple impacted teeth
Impacted teeth
0001571
Narrow palate
Narrow roof of mouth
0000189
Optic neuropathy
Damaged optic nerve
0001138
Reduced visual acuity
Decreased clarity of vision
0007663

Cause

Cherubism is caused by changes (mutations) in the SH3-domain binding protein 2 (SH3BP2) gene on chromosome 4.[1][2][3][4][5][6][7] The protein encoded by SH3BP2 is important for bone metabolism and remodeling.[6][7] Researchers believe that SH3BP2 mutations lead to an overly active version of the protein that alters critical signaling pathways in cells associated with the maintenance of bone tissue and in certain immune system cells. The overactive protein may cause inflammation in the bones of the jaw, triggering the production of too many osteoclasts (the cells that repair bone). Too many of these cells contribute to the abnormal breakdown of bone tissue in the upper and lower jaw. A combination of bone loss and inflammation likely leads to the cyst-like growths seen in cherubism.[7]

About 80% of people with cherubism have a mutation in the SH3BP2 gene. The cause of the condition in the remaining 20% of cases remains unknown.[1][2][7]

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.

    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

      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

        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.
        • 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 Cherubism. Click on the link to view a sample search on this topic.

          References

          1. Baskin B, Bowdin S, Ray PN. Cherubism. GeneReviews. September 1, 2011; https://www.ncbi.nlm.nih.gov/books/NBK1137/.
          2. Baskin B. Cherubism. Orphanet. November 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184.
          3. Friedrich RE, Scheuer HA, Zustin J, Grob T. Cherubism: A Case Report with Surgical Intervention. Anticancer Res. June 2016; 36(6):3109-15. https://www.ncbi.nlm.nih.gov/pubmed/27272835.
          4. Kadlub N, Sessiecq Q, Dainese L, Joly A, Lehalle D, Marlin S, Badoual C, Galmiche L, Majoufre-Lefebvre C, Berdal A, Deckert M, Vazquez MP, Descroix V, Coudert AE, Picard A. Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism. Hum Pathol. Dec 2016; 58:62-71. https://www.ncbi.nlm.nih.gov/pubmed/27498064.
          5. Shokri A, Khavid A. Cherubism: An Unusual Study With Long-Term Follow-Up. J Craniofac Surg. Juky 2016; 27(5):e511-2. https://www.ncbi.nlm.nih.gov/pubmed/27315317.
          6. Cariati P, Monsalve Iglesias F, Fernández Solís J, Valencia Laseca A, Martinez Lara I. Cherubism. A case report. Reumatol Clin. July 2016; https://www.ncbi.nlm.nih.gov/pubmed/27427211.
          7. Cherubism. Genetics Home Reference. April 2007; https://ghr.nlm.nih.gov/condition/cherubism.

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