Cherubism

Description

Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.

Clinical Features

Top most frequent phenotypes and symptoms related to Cherubism

  • Intellectual disability
  • Neoplasm
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy
  • Abnormality of the dentition
  • Visual loss
  • Reduced visual acuity
  • Proptosis
  • Feeding difficulties in infancy

And another 21 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Cherubism Is also known as crbm.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Cherubism Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for Cherubism.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

SH3BP2
Specificity
100 %
Genes
100 %
SH3BP2.

By Institute for Human Genetics University Clinic Freiburg (Germany).

SH3BP2
Specificity
100 %
Genes
100 %
SH3BP2 Gene Sequencing.

By GeneDx (United States).

SH3BP2
Specificity
100 %
Genes
100 %
SH3BP2 mutation analysis (Cherubism).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

SH3BP2
Specificity
100 %
Genes
100 %
SH3BP2. Sequencing of the exons 9.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SH3BP2
Specificity
100 %
Genes
100 %
SH3BP2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SH3BP2
Specificity
100 %
Genes
100 %
Cherubism (sequence analysis of exon 9 of SH3BP2 gene).

By CGC Genetics (Portugal).

SH3BP2
Specificity
100 %
Genes
100 %
Cherubism (sequence analysis of SH3BP2 gene).

By CGC Genetics (Portugal).

SH3BP2
Specificity
100 %
Genes
100 %

We have 17 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 LIMB-MAMMARY SYNDROME; LMS KEARNS-SAYRE SYNDROME; KSS EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME

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