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Fibrous dysplasia of jaw(CRBM)

MedGen UID:
40219
Concept ID:
C0008029
Disease or Syndrome
Synonyms: Cherubism; CRBM
SNOMED CT: Fibrous dysplasia of jaw (76098004); Cherubism (76098004); Familial fibrous dysplasia of jaw (76098004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): SH3BP2 (4p16.3)
 
Monarch Initiative: MONDO:0007315
OMIM®: 118400
Orphanet: ORPHA184

Disease characteristics

Excerpted from the GeneReview: Cherubism
Cherubism is a childhood-onset, autoinflammatory bone disease characterized by bilateral and symmetric proliferative fibroosseous lesions limited to the mandible and maxilla. The enlargement is usually symmetric in nature. The phenotype ranges from no clinical manifestations to severe mandibular and maxillary overgrowth with respiratory, vision, speech, and swallowing problems. In most affected persons, teeth are displaced, unerupted, unformed, or absent, or may appear to be floating in cystlike spaces; malocclusion, premature exfoliation of deciduous teeth, and root resorption have also been reported. The course and duration of the active process of bone destruction varies between affected individuals; the onset is usually in early childhood, and typically new lesions can occur until puberty. Regression of the lesions occurs as they become filled with bone and remodel during the second and third decade of life. By age 30 years, the facial abnormalities associated with cherubism are not usually recognizable and residual deformity of the jaws is rare. Typically, cherubism is an isolated benign condition; the affected person has normal intellectual skills and is without other physical anomalies. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Peter Kannu  |  Berivan Baskin  |  Sarah Bowdin   view full author information

Additional descriptions

From OMIM
Cherubism is characterized by a loss of bone, restricted to the jaws, and by the replacement of this bone with fibrous tissues, leading to facial swelling. Involvement of the infraorbital rim and the orbital floor leads to the upward tilting of the eyeballs and consequent exposure of the inferior part of the sclerae, giving a 'cherubic' appearance. Submandibular lymph node enlargement is often reported. Functional impairment includes mastication and speech problems, tooth alterations, and loss of normal vision. Onset of the disease is usually between 14 months and 4 years of age. The disease progresses through puberty, then stabilizes, and in some cases regresses without treatment (summary by Tiziani et al., 1999).  http://www.omim.org/entry/118400
From MedlinePlus Genetics
Cherubism is a disorder characterized by abnormal bone tissue in the jaw. 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 so mild that it may not be noticeable, while 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.

Most people with cherubism have few, if any, signs and symptoms affecting other parts of the body. Rarely, however, this condition occurs as part of another genetic disorder. For example, abnormal jaw growth, like that in cherubism, can occur in Ramon syndrome, which also involves short stature, intellectual disability, and overgrowth of the gums (gingival fibrosis). Additionally, cherubism-like growths have been reported in rare cases of Noonan syndrome (a developmental disorder characterized by unusual facial characteristics, short stature, and heart defects), fragile X syndrome (a condition primarily affecting males that causes learning disabilities and cognitive impairment), and neurofibromatosis type 1 (a condition primarily characterized by multiple skin tumors).  https://medlineplus.gov/genetics/condition/cherubism

Clinical features

From HPO
Macular scar
MedGen UID:
140842
Concept ID:
C0423428
Acquired Abnormality
Scar tissue in the macula.
Jaw swelling
MedGen UID:
900862
Concept ID:
C4280766
Finding
Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).
Submandibular lymph node enlargement
MedGen UID:
226814
Concept ID:
C1264056
Pathologic Function
Increased size of the lymph nodes that are located beneath the mandible (lower jaw).
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
The facial appearance is more circular than usual as viewed from the front.
Lower eyelid retraction
MedGen UID:
662096
Concept ID:
C0578686
Finding
Inferior malposition of the lower eyelid margin without eyelid eversion.
Narrow palate
MedGen UID:
278045
Concept ID:
C1398312
Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Impacted teeth, multiple
MedGen UID:
327004
Concept ID:
C1839965
Finding
The presence of multiple impacted teeth.
Alveolar ridge overgrowth
MedGen UID:
400802
Concept ID:
C1865598
Finding
Increased width of the alveolar ridges.
Oligodontia
MedGen UID:
904670
Concept ID:
C4082304
Congenital Abnormality
The absence of six or more teeth from the normal series by a failure to develop.
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Marcus Gunn pupil
MedGen UID:
488917
Concept ID:
C0549122
Disease or Syndrome
An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Optic neuropathy
MedGen UID:
854546
Concept ID:
C3887709
Disease or Syndrome
Disorder of the optic nerve.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFibrous dysplasia of jaw
Follow this link to review classifications for Fibrous dysplasia of jaw in Orphanet.

Professional guidelines

PubMed

Fan Y, Glied A
Oral Maxillofac Surg Clin North Am 2022 Feb;34(1):179-187. Epub 2021 Oct 1 doi: 10.1016/j.coms.2021.08.004. PMID: 34602322
Zhang J, Troulis MJ, August M
J Oral Maxillofac Surg 2021 Mar;79(3):585-597. Epub 2020 Sep 12 doi: 10.1016/j.joms.2020.09.012. PMID: 33038300
Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ
Orphanet J Rare Dis 2012 May 24;7 Suppl 1(Suppl 1):S6. doi: 10.1186/1750-1172-7-S1-S6. PMID: 22640403Free PMC Article

Recent clinical studies

Etiology

Dahlgren SE, Lind PO, Lindbom A, Mårtensson G
Acta Otolaryngol 1969 Sep;68(3):257-70. doi: 10.3109/00016486909121564. PMID: 4907321

Diagnosis

Gupta N, Gupta R, Bakshi J, Rajwanshi A
Diagn Cytopathol 2009 Dec;37(12):920-2. doi: 10.1002/dc.21139. PMID: 19582807
Dahlgren SE, Lind PO, Lindbom A, Mårtensson G
Acta Otolaryngol 1969 Sep;68(3):257-70. doi: 10.3109/00016486909121564. PMID: 4907321

Prognosis

Dahlgren SE, Lind PO, Lindbom A, Mårtensson G
Acta Otolaryngol 1969 Sep;68(3):257-70. doi: 10.3109/00016486909121564. PMID: 4907321

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