Many trisomy 13 afflicted foetuses never survive to birth and are often stillborn or spontaneously aborted. However of those that survive and even those observed in utero the following clinical physical and mental features have been compiled:[1][2]
Note that the characteristics vary from person to person. ie. not everything compiled is observable in each person.
- Holoprosencephaly - the brain doesn't divide into two halves[3]
- Neural Tube Defects[4]
- Ocular Hypotelorism/Hypertelorism - reduced or increased distance between the eyes[5][6]
- Microphthalmia - unusually small eyes[7]
- Anophthalmia - the absence of one or both eyes[7]
- Microcephaly - unusually small head[8]
- Cleft Lip and/or Palate (Shown Figure 4.1)[9]
- Nasal Malformations
- Ear Malformations and/or Deafness
Note that the characteristics vary from person to person. ie. not everything compiled is observable in each person.
- Profound Mental Retardation
- Holoprosencephaly - the brain doesn't divide into two halves[3]
- Neural Tube Defects[4]
- Cranial Deformation
- Ocular Hypotelorism/Hypertelorism - reduced or increased distance between the eyes[5][6]
- Microphthalmia - unusually small eyes[7]
- Anophthalmia - the absence of one or both eyes[7]
- Microcephaly - unusually small head[8]
- Cleft Lip and/or Palate (Shown Figure 4.1)[9]
- Nasal Malformations
- Ear Malformations and/or Deafness
- Gastrointestinal Abnormalities
- Omphalocele - A birth defect in which part of the intestine protrudes outside of the abdomen at the umbilicus[10]
- Exomphalos - Protrusion or rupture of the navel[11]
- Urogenital Malformations
- Polycystic Kidneys[12]
- Cardiac or Pulmonary Defects
- Atrial or Ventricular Septal Defects (Shown figure 4.2)[13]
- Patent Ductus Arteriosus[14]
The above listed physical and mental features are only the most common or most severe of those associated with Patau Syndrome.
The severity of most of these malformations or abnormalities is what causes the median survival time to be at a mere 7 days.[15]
REFERENCE LIST:
[1] Wright, M. and Tidy, C. (2013). Patau's Syndrome (Trisomy 13). [online] Patient.co.uk. Available at: http://www.patient.co.uk/doctor/pataus-syndrome-trisomy-13 [Accessed 11 Aug. 2014].
[2] WebMD, (2014). Trisomy 13 Syndrome. [online] Available at: http://www.webmd.com/children/trisomy-13-syndrome [Accessed 11 Aug. 2014].
[3] Agrawal, R. and Rabou, A. (2014). Holoprosencephaly. [online] Radiopaedia.org. Available at: http://radiopaedia.org/articles/holoprosencephaly [Accessed 17 Aug. 2014].
[4] Lemire, R. (1988). Neural Tube Defects. JAMA, [online] 259(4), pp.558-562. Available at: http://jama.jamanetwork.com/article.aspx?articleid=370408 [Accessed 13 Aug. 2014].
[5] The Free Dictionary, (2009). Ocular Hypotelorism. [online] Available at: http://medical-dictionary.thefreedictionary.com/ocular+hypotelorism [Accessed 11 Aug. 2014].
[6] Weerakkody, Y. and Sandhyala, A. (n.d.). Hypertelorism. [online] Radiopaedia.org. Available at: http://radiopaedia.org/articles/hypertelorism [Accessed 11 Aug. 2014].
[7] National Eye Institute, (2009). Facts About Anophthalmia and Microphthalmia. [online] Available at: http://www.nei.nih.gov/health/anoph/anophthalmia.asp [Accessed 11 Aug. 2014].
[8] Kaneshiro, N. (2013). Microcephaly. [online] Medline Plus. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/003272.htm [Accessed 13 Aug. 2014].
[9] Cleft Lip. (n.d.). [image] Available at: http://s2.hubimg.com/u/7191889_f248.jpg [Accessed 13 Aug. 2014].
[10] Cincinnati Children's, (2013). Omphalocele. [online] Available at: http://www.cincinnatichildrens.org/health/o/omphalocele/ [Accessed 13 Aug. 2014].
[11] MeD India, (n.d.). Exomphalos. [online] Available at: http://www.medindia.net/patients/paediatrics/exomphalos.htm [Accessed 13 Aug. 2014].
[12] Better Health Channel, (2013). Polycystic Kidney Disease (PKD). [online] Available at: http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Polycystic_kidney_disease [Accessed 13 Aug. 2014].
[13] Medscape, (n.d.). Cardiovascular Ultrasound. [image] Available at: http://img.medscape.com/article/mgmpre00/art-wh3135.fig1.jpg [Accessed 13 Aug. 2014].
[14] American Heart Association, (2014). Patent Ductus Arteriosus (PDA). [online] Available at: http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/AboutCongenitalHeartDefects/Patent-Ductus-Arteriosus-PDA_UCM_307032_Article.jsp [Accessed 11 Aug. 2014].
[15] Rasmussen, S., Wong, L., Yang, Q., May, K. and Friedman, J. (2003). Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics, 111(4), pp.777--784.
[1] Wright, M. and Tidy, C. (2013). Patau's Syndrome (Trisomy 13). [online] Patient.co.uk. Available at: http://www.patient.co.uk/doctor/pataus-syndrome-trisomy-13 [Accessed 11 Aug. 2014].
[2] WebMD, (2014). Trisomy 13 Syndrome. [online] Available at: http://www.webmd.com/children/trisomy-13-syndrome [Accessed 11 Aug. 2014].
[3] Agrawal, R. and Rabou, A. (2014). Holoprosencephaly. [online] Radiopaedia.org. Available at: http://radiopaedia.org/articles/holoprosencephaly [Accessed 17 Aug. 2014].
[4] Lemire, R. (1988). Neural Tube Defects. JAMA, [online] 259(4), pp.558-562. Available at: http://jama.jamanetwork.com/article.aspx?articleid=370408 [Accessed 13 Aug. 2014].
[5] The Free Dictionary, (2009). Ocular Hypotelorism. [online] Available at: http://medical-dictionary.thefreedictionary.com/ocular+hypotelorism [Accessed 11 Aug. 2014].
[6] Weerakkody, Y. and Sandhyala, A. (n.d.). Hypertelorism. [online] Radiopaedia.org. Available at: http://radiopaedia.org/articles/hypertelorism [Accessed 11 Aug. 2014].
[7] National Eye Institute, (2009). Facts About Anophthalmia and Microphthalmia. [online] Available at: http://www.nei.nih.gov/health/anoph/anophthalmia.asp [Accessed 11 Aug. 2014].
[8] Kaneshiro, N. (2013). Microcephaly. [online] Medline Plus. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/003272.htm [Accessed 13 Aug. 2014].
[9] Cleft Lip. (n.d.). [image] Available at: http://s2.hubimg.com/u/7191889_f248.jpg [Accessed 13 Aug. 2014].
[10] Cincinnati Children's, (2013). Omphalocele. [online] Available at: http://www.cincinnatichildrens.org/health/o/omphalocele/ [Accessed 13 Aug. 2014].
[11] MeD India, (n.d.). Exomphalos. [online] Available at: http://www.medindia.net/patients/paediatrics/exomphalos.htm [Accessed 13 Aug. 2014].
[12] Better Health Channel, (2013). Polycystic Kidney Disease (PKD). [online] Available at: http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Polycystic_kidney_disease [Accessed 13 Aug. 2014].
[13] Medscape, (n.d.). Cardiovascular Ultrasound. [image] Available at: http://img.medscape.com/article/mgmpre00/art-wh3135.fig1.jpg [Accessed 13 Aug. 2014].
[14] American Heart Association, (2014). Patent Ductus Arteriosus (PDA). [online] Available at: http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/AboutCongenitalHeartDefects/Patent-Ductus-Arteriosus-PDA_UCM_307032_Article.jsp [Accessed 11 Aug. 2014].
[15] Rasmussen, S., Wong, L., Yang, Q., May, K. and Friedman, J. (2003). Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics, 111(4), pp.777--784.