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20p12.3 microdeletion syndrome

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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

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)

Diagnosis

Treatment

NIH genetic and rare disease info

20p12.3 microdeletion syndrome is a rare disease.

External links

Wikipedia
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