Trisomy 13 Syndrome

It is feasible that the primary title of the report Trisomy 13 Disorder is not the name you anticipated. Please check the basic synonyms detailing to locate the alternative name(s) and disorder class(s) covered by this rating.


  • Chromosome 13, Trisomy 13 Complete
  • Full Trisomy 13 Disorder
  • D Trisomy Disorder
  • Patau Syndrome

Condition Class

  • None

General Discussion
Trisomy 13 Syndrome is an uncommon chromosomal condition where all or a portion of chromosome 13 appears 3 times (trisomy) as opposed to two times in cells of the physical body. In some afflicted individuals, just a portion of cells could consist of the additional 13th chromosome (mosaicism), whereas various other cells consist of the healthy chromosomal set.

In people with Trisomy 13 Disorder, the range and also seriousness of linked symptoms and also findings might depend on the specific area of the copied (trisomic) portion of chromosome 1, as well as the percentage of cells having the irregularity. However, in numerous damaged babies and also kids, such abnormalities might include developing delays, profound mental deficiency, unusually small eyes (microphthalmia), an irregular groove in the upper lip (cleft lip), incomplete closure of the roofing of the mouth (cleft palate), undescended testes (cryptorchidism) in affected males, as well as additional (supernumerary) fingers and toes (polydactyly). Additional malformations of the head as well as facial (craniofacial) location might additionally exist, such as a reasonably little head (microcephaly) with a sloping forehead; an extensive, level nose; commonly set eyes (ocular hypertelorism); upright skin folds covering the eyes; internal edges (epicanthal folds); scalp problems; and unshaped, low-set ears. Affected infants might likewise have insufficient advancement of particular regions of the mind (e.g., the forebrain); kidney (renal) malformations; as well as architectural heart (heart) flaws at birth (congenital). For example, particular heart flaws may include an irregular position in the partition splitting the top or lower chambers of the heart (atrial or ventricular septal defects) or determination of the fetal position in between both major arteries (aorta, lung artery) emerging from the heart (license ductus arteriosus). Numerous babies with Trisomy 13 Syndrome fail to expand and also gain weight at the expected rate (failing to thrive) and also have serious eating problems, diminished muscle tone (hypotonia), and episodes where there is momentary cessation of spontaneous berathing (apnea). Lethal problems could develop throughout early stage or early childhood.

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