20p12.3 microdeletion syndrome
Don’t fight 20p12.3 microdeletion syndrome alone.
Find your community on the free RareGuru App.Connect with other caregivers and patients with 20p12.3 microdeletion syndrome and get the support you need.
Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Boca Raton, FL, 33429 , United States Phone: +1-561-395-4252 Email: https://chromodisorder.org/contact/ Url: https://chromodisorder.org/ Name: Unique – Rare Chromosome Disorder Support Group G1, The Stables Station Road West
Surrey RH8 9EE
United Kingdom Phone: +44 (0)1883 723356 Email: info@rarechromo.org Url: https://www.rarechromo.org/
Connect with other users with 20p12.3 microdeletion syndrome on the RareGuru app
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
