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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cherubism


Other Names for this Disease

  • CRBM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of cherubism?

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. In some people the condition is very mild and barely noticeable, while in other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance.[1]
Last updated: 1/11/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Cherubism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the mandible 90%
Neoplasm of the skeletal system 90%
Abnormality of dental morphology 50%
Reduced number of teeth 50%
Abnormality of the voice 7.5%
Apnea 7.5%
Feeding difficulties in infancy 7.5%
Optic atrophy 7.5%
Proptosis 7.5%
Visual impairment 7.5%
Autosomal dominant inheritance -
Childhood onset -
Constricted visual fields -
Macular scarring -
Marcus Gunn pupil -
Oligodontia -
Optic neuropathy -
Round face -
Striae distensae -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Cherubism. Genetics Home Reference. April 2007; http://ghr.nlm.nih.gov/condition=cherubism. Accessed 4/5/2010.


Other Names for this Disease
  • CRBM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.