NIH Rare Diseases
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 261295Disease definition20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.EpidemiologyIt has been clinically and molecularly characterized in 3 patients.Clinical descriptionDysmorphic features include macrocephaly, hypertelorism, down-slanting palpebral fissures and microstomia.EtiologyThis syndrome is caused by an interstitial deletion encompassing 20p12.3. All these deletions except one occurred de novo and were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). They have a variable size with the smallest region of overlap including only one gene, BMP2, which is a good candidate gene for explaining the phenotype of Wolff-Parkinson-White syndrome.Visit the Orphanet disease page for more resources.
MalaCards based summary
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20p12.3 Microdeletion Syndrome, is also known as
monosomy 20p12.3. An important gene associated with 20p12.3 Microdeletion Syndrome is
BMP2 (Bone Morphogenetic Protein 2). Related phenotypes are
macrocephaly and
malar flattening
