Cherubism

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Cherubism

SH3BP2

View recommended genes panels

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.

Click here to know more about Mendelian.

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.

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 %

You can get up to 17 more panels with our dedicated tool

Learn more

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 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1 CYSTINOSIS, NEPHROPATHIC; CTNS TRANSCOBALAMIN II DEFICIENCY CHROMOSOME 3q29 DELETION SYNDROME