20p12.3 microdeletion syndrome

Alternate names

Del(20)(p12.3); Monosomy 20p12.3

Definition

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome , variable developmental delay and facial dysmorphism.

Epidemiology

It has been clinically and molecularly characterized in 3 patients.

Cause

• 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.

Signs and symptoms

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

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Global developmental delay
• Hypertelorism(Wide-set eyes)

30%-79% of people have these symptoms

• Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
• Epicanthus(Eye folds)
• Hypoplasia of the maxilla(Decreased size of maxilla)
• Macrocephaly(Increased size of skull)
• Malar flattening(Zygomatic flattening)
• Narrow mouth(Small mouth)
• Short stature(Decreased body height)
• Wolff-Parkinson-White syndrome

5%-29% of people have these symptoms

• Atrial septal defect(An opening in the wall separating the top two chambers of the heart)
• Broad hallux phalanx(Broad bone of big toe)
• Broad thumb(Broad thumbs)
• Depressed nasal bridge(Depressed bridge of nose)
• Full cheeks(Apple cheeks)
• Long philtrum
• Microtia(Small ears)
• Muscular hypotonia(Low or weak muscle tone)
• Pectus carinatum(Pigeon chest)
• Seizure
• Thickened helices
• Ventriculomegaly
• Wide nasal bridge(Broad nasal bridge)

NIH genetic and rare disease info

• NIH info on 20p12.3 microdeletion syndrome

20p12.3 microdeletion syndrome is a rare disease.

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