MCID: 20P001
MIFTS: 16

20p12.3 Microdeletion Syndrome

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 20p12.3 Microdeletion Syndrome

MalaCards integrated aliases for 20p12.3 Microdeletion Syndrome:

Name: 20p12.3 Microdeletion Syndrome 49 55
Monosomy 20p12.3 49 55
Del(20)(p12.3) 49 55

Characteristics:

Orphanet epidemiological data:

55
20p12.3 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for 20p12.3 Microdeletion Syndrome

NIH Rare Diseases : 49 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. Last updated: 6/10/2011

MalaCards based summary : 20p12.3 Microdeletion Syndrome, is also known as monosomy 20p12.3, and has symptoms including narrow mouth, macrocephaly and malar flattening. An important gene associated with 20p12.3 Microdeletion Syndrome is BMP2 (Bone Morphogenetic Protein 2).

Related Diseases for 20p12.3 Microdeletion Syndrome

Symptoms & Phenotypes for 20p12.3 Microdeletion Syndrome

Human phenotypes related to 20p12.3 Microdeletion Syndrome:

55 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000160
2 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
3 malar flattening 55 31 frequent (33%) Frequent (79-30%) HP:0000272
4 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
5 full cheeks 55 31 occasional (7.5%) Occasional (29-5%) HP:0000293
6 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
7 hypoplasia of the maxilla 55 31 frequent (33%) Frequent (79-30%) HP:0000327
8 long philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000343
9 thickened helices 55 31 occasional (7.5%) Occasional (29-5%) HP:0000391
10 wide nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000431
11 downslanted palpebral fissures 55 31 frequent (33%) Frequent (79-30%) HP:0000494
12 pectus carinatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000768
13 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
14 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
15 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
16 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
17 wolff-parkinson-white syndrome 55 31 frequent (33%) Frequent (79-30%) HP:0001716
18 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
19 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
20 depressed nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0005280
21 microtia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008551
22 broad hallux phalanx 55 31 occasional (7.5%) Occasional (29-5%) HP:0010059
23 broad thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0011304

Drugs & Therapeutics for 20p12.3 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 20p12.3 Microdeletion Syndrome

Genetic Tests for 20p12.3 Microdeletion Syndrome

Anatomical Context for 20p12.3 Microdeletion Syndrome

Publications for 20p12.3 Microdeletion Syndrome

Variations for 20p12.3 Microdeletion Syndrome

Expression for 20p12.3 Microdeletion Syndrome

Search GEO for disease gene expression data for 20p12.3 Microdeletion Syndrome.

Pathways for 20p12.3 Microdeletion Syndrome

GO Terms for 20p12.3 Microdeletion Syndrome

Sources for 20p12.3 Microdeletion Syndrome

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70 UMLS via Orphanet
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