National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

20p12.3 microdeletion syndrome


Other Names:
Del(20)(p12.3); Monosomy 20p12.3
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 261295

Definition
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

Epidemiology
It has been clinically and molecularly characterized in 3 patients.

Clinical description
Dysmorphic features include macrocephaly, hypertelorism, down-slanting palpebral fissures and microstomia.

Etiology
This 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: 6/1/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 23 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Global developmental delay 0001263
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
30%-79% of people have these symptoms
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] 		0000327
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Malar flattening
Zygomatic flattening
0000272
Narrow mouth
Small mouth
0000160
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Wolff-Parkinson-White syndrome 0001716
5%-29% of people have these symptoms
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Broad hallux phalanx
Broad bone of big toe
Wide bone of big toe
[ more ] 		0010059
Broad thumb
Broad thumbs
Wide/broad thumb
[ more ] 		0011304
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] 		0000293
Long philtrum 0000343
Microtia
Small ears
Underdeveloped ears
[ more ] 		0008551
Muscular hypotonia
Low or weak muscle tone
0001252
Pectus carinatum
Pigeon chest
0000768
Seizure 0001250
Thickened helices 0000391
Ventriculomegaly 0002119
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
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Last updated: 7/1/2020

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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