Holoprosencephaly (resulting from a defect in the division of the brain into two hemispheres) is present in 70% of cases and can be observed as variable degrees of hemisphere fusion on MRI. [orpha.net]

This is the first reported case of a partial trisomy 13q associated with chromosome 8 with unique clinical presentations. [hindawi.com]

Many infants are thought to be deaf, and profound mental retardation is usually present. [rarediseases.org]

Table 2 shows that there is a large standard deviation for the BW distribution for cases with trisomy present on amniocentesis (SD 1.07), and for the BW distribution for cases with no trisomy present on amniocentesis (SD 1.33). [jmg.bmj.com]

The extra genetic material present disrupts the normal course of development, causing the characteristic features of the disorder. [rarediseases.info.nih.gov]

• Trisomy 21

  Genetic counseling The risk of recurrence of trisomy (21, 13 or 18) in families of an index case with trisomy 13 is around 1%. [orpha.net]

  About 1 in 4,000 is diagnosed with trisomy 13. It is the third most common autosomal trisomies after trisomy 21 (Down's syndrome) and trisomy 18 (Edwards' syndrome). [soft.org.uk]

  Screening for Patau's syndrome You'll be offered a screening test for Patau's syndrome, as well as Down's syndrome (trisomy 21) and Edwards' syndrome (trisomy 18), from 10 to 14 weeks of pregnancy. [nhs.uk]

• Atrial Septal Defect

  There are often signs of congenital heart disease, such as: Abnormal placement of the heart toward the right side of the chest instead of the left Atrial septal defect Patent ductus arteriosus Ventricular septal defect Gastrointestinal x-rays or ultrasound [medlineplus.gov]

  Heart problems: Heart defects are common in babies with trisomy 13. Holes between the heart chambers (ventricular septal defect and atrial septal defect) and patent ductus arteriosus can both be found in trisomy 13. [verywellfamily.com]

  septal defect An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Bilateral single transverse palmar creases 0007598 Cleft palate Cleft roof of mouth 0000175 Cognitive [rarediseases.info.nih.gov]

• Hypertension

  Intracranial hypertension. Brain oedema. Cerebral palsy Pascal 002 Biological and medical sciences / 002B Medical sciences / 002B18 Psychopathology. [pascal-francis.inist.fr]

  Those that do can have serious complications including: Breathing difficulties Congenital heart defects Hearing loss High blood pressure (hypertension) Intellectual disabilities Neurological problems Pneumonia Seizures Slow growth Trouble feeding or digesting [webmd.com]

  Preeclampsia is an abnormal condition of pregnancy characterized by the rapid onset of high blood pressure (hypertension), abnormal amounts of protein in the urine (proteinuria), and/or excessive retention of fluids (edema). [rarediseases.org]

Management and treatment Management is supportive only. [orpha.net]

There is no specific treatment for trisomy 13. Treatment varies from child to child and depends on the specific symptoms. More than 90% of children with trisomy 13 die in the first year. Complications begin almost immediately. [medlineplus.gov]

There is no cure for trisomy 13, and treatments focus on your baby’s symptoms. These can include surgery and therapy. [webmd.com]

Standard Therapies Treatment The treatment of Trisomy 13 Syndrome is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a multidisciplinary team of medical professionals. [rarediseases.org]

Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. [rarediseases.info.nih.gov]

Prognosis Surgical treatment of the malformations does little to improve the poor prognosis associated with this syndrome: half of the infants die within the first month of life and 90% die before 1 year of age from cardiac, renal or neurologic complications [orpha.net]

Future directions Although this study has focused on intrauterine growth restriction and malformation, the most important outcome, long term postnatal prognosis, has been not been assessed because adequate follow up data are not yet available. [jmg.bmj.com]

Etiology Free trisomy 13 is found in around 75% of cases. [orpha.net]

Summary Epidemiology Its incidence is estimated at between 1/8,000 and 1/15,000 births. Clinical description In utero death occurs in over 95% of fetuses with this chromosomal anomaly. [orpha.net]

Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diagn. 2003 Oct;23(10):856-60. Pont SJ, Robbins JM, Bird TM, Gibson JB, Cleves MA, Tilford JM, Aitken ME. [ghr.nlm.nih.gov]

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time. [nhs.uk]

Parker SE, Mai CT, Canfield MA, et al; National Birth Defects Prevention Network. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. [jamanetwork.com]