Presentation
When three copies of any one of the chromosomes are present, rather than the normal two, the outcome is 47 chromosomes in the cell, instead of the usual 46. [trisomy.org]
Mosaic trisomy 17 is rare with only 28 cases reported and the clinical presentation is highly variable. [ncbi.nlm.nih.gov]
The term trisomy describes the condition in which an extra chromosome is present in the usual pair of homologous chromosomes. Three copies are present from in one homologous chromosome pair. [differencebetween.com]
Mosaic trisomy 18 has been detected in a few patients presenting with a clinical picture that varies from classical trisomy 18 to a normal phenotype depending on the number of trisomic cells present in the tissues. [orpha.net]
This is the first reported case of a partial trisomy 13q associated with chromosome 8 with unique clinical presentations. [hindawi.com]
Entire Body System
- Weakness
Other symptoms include: Brain and/or spinal cord abnormalities Poorly developed eyes Additional fingers and/or toes Cleft lip Weak muscles Most infants born with Trisomy 13 pass away within the first weeks of life. [blog.epichealthservices.com]
The cry is weak, and response to sound is decreased. The orbital ridges are hypoplastic, the palpebral fissures are short, and the mouth and jaw are small; all of these characteristics give the face a pinched appearance. [msdmanuals.com]
Trisomy 18 thin and frail babies with a weak cry feeding problems small head size with the back of the head prominent ears are usually low-set on the head mouth and jaw unusually small shortened sternum (breastbone) about 90 percent of babies have heart [childrenshospital.org]
Treatment is ordered when certain issues — such as heart problems, muscle weaknesses or spinal curvatures — occur and need to be treated. At Children’s Hospital of Philadelphia (CHOP), we practice collaborative, family-centered care. [chop.edu]
- Crying
The cry is weak, and response to sound is decreased. The orbital ridges are hypoplastic, the palpebral fissures are short, and the mouth and jaw are small; all of these characteristics give the face a pinched appearance. [msdmanuals.com]
Trisomy 18 thin and frail babies with a weak cry feeding problems small head size with the back of the head prominent ears are usually low-set on the head mouth and jaw unusually small shortened sternum (breastbone) about 90 percent of babies have heart [childrenshospital.org]
Heart defects, including a hole between the heart's upper (atrial septal defect) or lower (ventricular septal defect) chambers Low-set ears Severe developmental delays Chest deformity Slowed growth Small head (microcephaly) Small jaw (micrognathia) Weak cry [webmd.com]
(bicornuate uterus) A baby with trisomy 18 may have symptoms such as: Looking thin and frail Failure to thrive Problems feeding Small size, even when delivered full term Small head Low-set ears Small mouth and jaw Shortened breastbone (sternum) Weak cry [urmc.rochester.edu]
- Feeding Difficulties
Phrases jumped out at me, none of which were good: congenital heart defects, feeding difficulties, severe to profound mental retardation. And, above all, death. [thedailybeast.com]
Affected infants typically are unusually small and have feeding difficulties. [rarediseases.org]
difficulties, sepsis, and apnea caused by CNS defects. [emedicine.medscape.com]
- Epilepsy
Subclass ofchromosomal disease, sex chromosome disorder, X chromosome number anomaly with male phenotype, male infertility due to gonadal dysgenesis, sex chromosome disorder of sex development, chromosomal anomaly with epilepsy as a major feature [commons.wikimedia.org]
[…] grows, he is at greater risk for certain medical problems and may develop: Congenital heart disease Gastrointestinal abnormalities Musculoskeletal and movement problems Spine disorders such as scoliosis, kyphosis or lordosis Endocrinologic disorders Epilepsy [chop.edu]
Management of epilepsy is similar to that in other children; seizures are generally well controlled by standard pharmacological therapy. [ojrd.biomedcentral.com]
- Fever
He has fevers, heart and bowel problems, and urinary tract infections, and he breaks his fragile bones. He doesn’t walk or talk. He weighs 55 pounds, and he won’t get any bigger. But he keeps on going. He’s definitely not a vegetable. [blogs.plos.org]
Cardiovascular
- Hypotension
The 'wait to see' strategy before starting the resuscitation should be abandoned, as it may lead to deleterious consequences such as hypoxemia and hypotension, which further increase morbidity and mortality. [scielo.br]
Eyes
- Strabismus
Additional ocular malformations may include abnormal deviation of one eye in relation to the other (strabismus); inequality in the diameter of the pupils (anisocoria); rapid involuntary eye movements (nystagmus); and/or a decreased response to visual [rarediseases.org]
[…] such as corneal opacities, microphtalmia, coloboma, cataract, glaucoma, blue sclera, oblique or narrow palpebral fissures, epicanthic folds, ptosis, abnormally thickened eyelids, abnormally long or sparse eyelashes, blepharophimosis, hypertelorism, strabismus [scielo.br]
Musculoskeletal
- Small Head
Trisomy 18 thin and frail babies with a weak cry feeding problems small head size with the back of the head prominent ears are usually low-set on the head mouth and jaw unusually small shortened sternum (breastbone) about 90 percent of babies have heart [childrenshospital.org]
Babies may be small at birth and have characteristic facial appearance along with poor muscle tone. Some of these features include: a small head size (microcephaly), small eyes (microphthalmia), cleft lip/palate, and variations in ear shape. [health.state.mn.us]
[…] size, even when delivered full term Small head Low-set ears Small mouth and jaw Shortened breastbone (sternum) Weak cry Problems with hearing Heart defects Can’t extend fingers fully Arms and legs in a bent position (contracture) Feet with a curved shape [urmc.rochester.edu]
Other birth defects of trisomy 13 include: Clenched hands Cleft lip or palate Extra fingers or toes (polydactyly) Hernias Kidney, wrist, or scalp problems Low-set ears Small head (microcephaly) Undescended testes Babies born with trisomy 13 can have many [webmd.com]
Skin
- Ulcer
[…] forehead usually there are major structural problems with the brain including holoprosencephaly, when the brain does not divide properly close-set eyes underdeveloped nostrils eye problems ears low-set and unusually shaped scalp abnormalities that resemble ulcers [childrenshospital.org]
[…] frequently present, such as an abnormally small head (microcephaly) and a sloping forehead; unusual wideness of the soft spots (fontanelles) at the front and back of the skull; incomplete closure of the roof of the mouth (palate); a small jaw; scalp ulceration [rarediseases.org]
Ears
- Hearing Impairment
They said he’d be blind and hearing impaired, and he’s not. And he has full blown trisomy 18, he’s not a mosaic. Donnie’s low functioning. He’s had pneumonia three times this year. He lived through a C. difficile infection. [blogs.plos.org]
impairment Inwardly curved little finger Abnormal space between the great and second toe Unusual creases on the soles of the feet and one or both hands Tests to confirm Down syndrome are often done before a baby is born through amniocentesis or chorionic [chop.edu]
Face, Head & Neck
- Hypertelorism
[…] is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism [orpha.net]
Additional malformations of the head and facial (craniofacial) area may also be present, such as a relatively small head (microcephaly) with a sloping forehead; a broad, flat nose; widely set eyes (ocular hypertelorism); vertical skin folds covering the [rarediseases.org]
[…] eye abnormalities such as corneal opacities, microphtalmia, coloboma, cataract, glaucoma, blue sclera, oblique or narrow palpebral fissures, epicanthic folds, ptosis, abnormally thickened eyelids, abnormally long or sparse eyelashes, blepharophimosis, hypertelorism [scielo.br]
- Short Neck
Furthermore, she had low birth weight, microcephaly, low-set ears, micrognathia, short neck, finger overlaps, clitoromegaly, and outwardly prominent heels. Gluteal muscles were atrophic. [oatext.com]
They can include: Eyes that slant upward Small ears that may fold over slightly at the top Small mouth that makes the tongue appear large Small nose with a flattened bridge Short neck Small hands with short fingers 2 instead of 3 palm creases, including [stanfordchildrens.org]
Some common physical features of Down syndrome include: A flattened face, especially the bridge of the nose Almond-shaped eyes that slant up A short neck Small ears A tongue that tends to stick out of the mouth Tiny white spots on the iris (colored part [cdc.gov]
Other characteristics may include a short neck; loose skin folds over the back of the neck; and/or the presence of a benign lesion or birthmark consisting of abnormal clusters of blood vessels (capillary hemangiomas), most frequently on the center of [rarediseases.org]
Thorax and abdomen Short neck with excess hair, short sternum, small nipples, umbilical or inguinal hernia and/or diastasis of the rectus muscles, narrow pelvis and limitation of the hip abduction may be noticed. [scielo.br]
Urogenital
- Cryptorchidism
Genitals are frequently abnormal in both sexes; cryptorchidism and an abnormal scrotum occur in boys, and a bicornuate uterus occurs in girls. [merckmanuals.com]
[…] cleft in the iris (coloboma) Low-set ears Intellectual disability, severe Scalp defects (missing skin) Seizures Single palmar crease Skeletal (limb) abnormalities Small eyes Small head (microcephaly) Small lower jaw (micrognathia) Undescended testicle (cryptorchidism [mountsinai.org]
[…] small head size), cleft lip and/or cleft palate (facial and/or oral defect), omphalocele (abdominal defect), spina bifida (open spine defect), microphthalmia (small eyes), anophthalmia (absent eyes), scalp defects, polydactyly (extra fingers and toes), cryptorchidism [health.state.mn.us]
Abnormalities of the genitals are also associated with Trisomy 13 Syndrome, including undescended testes (cryptorchidism) and an abnormally formed scrotum in affected males and underdeveloped ovaries and malformed uterus (bicornuate uterus) in affected [rarediseases.org]
Neurologic
- Seizure
Complications may include: Breathing difficulty or lack of breathing (apnea) Deafness Feeding problems Heart failure Seizures Vision problems When to Contact a Medical Professional Call your health care provider if you have had a child with trisomy 13 [mountsinai.org]
A neurologist who saw Zane at 4 months for seizures said that his feeding issues were nature’s way of controlling the population. [thedailybeast.com]
Complications may include: Breathing difficulty or lack of breathing (apnea) Deafness Feeding problems Heart failure Seizures Vision problems Call your health care provider if you have had a child with trisomy 13 and you plan to have another child. [medlineplus.gov]
[…] mouth and jaw unusually small shortened sternum (breastbone) about 90 percent of babies have heart defects clenched fists difficulty extending fingers contracted joints spina bifida, eye problems, cleft lip and palate and hearing loss may be present seizures [childrenshospital.org]
Physical issues include: Abnormal brain structure Congenital heart disease Rotation of internal organs Difficulty breathing Deafness Seizures Testing for Trisomy birth defects One in 10 pregnant mothers have risk factors associated with Trisomy and are [obgyn.coloradowomenshealth.com]
Treatment
This question featured in : Trisomy 13 syndrome treatment options Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. [practo.com]
Management and treatment Management is supportive only. [orpha.net]
Prognosis
Prognosis Surgical treatment of the malformations does little to improve the poor prognosis associated with this syndrome: 90% of infants die within the first year of life from cardiac, renal or neurological complications, or from repeated infections. [orpha.net]
Developmental and physical delays are present in all three syndromes, but in trisomy 18 and trisomy 13 these delays are usually greater and the prognosis includes a much shorter life span, as most will not survive their first year of life. [trisomy.org]
Thus, it is unclear whether heart surgery improves the prognosis of these individuals(46). [scielo.br]
Support Groups Support groups for trisomy 13 include: Support Organization for Trisomy 18, 13 and Related Disorders (SOFT): trisomy.org Hope for Trisomy 13 and 18: www.hopefortrisomy13and18.org Outlook (Prognosis) More than 90% of children with trisomy [mountsinai.org]
Etiology
Therefore, importance is likely to be placed on clarifying and managing etiological factors in future clinical studies. [oatext.com]
Etiology The majority of cases are associated with free trisomy 18. [orpha.net]
Etiology In ES, as well as in other trisomies, maternal age is usually older(6,9,13,17,30). [scielo.br]
Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. Am J Med Genet A. 2009 Jul;149A(7):1415-20. Sherman SL, Allen EG, Bean LH, Freeman SB. [cdc.gov]
Epidemiology
Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009. Am. J. Med. Genet. A, 158A, 1145-50. [embryology.med.unsw.edu.au]
Summary Epidemiology Incidence is estimated at between 1/6000 and 1/8000 births. In utero death occurs in more than 95% of fetuses with this chromosome 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]
Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. Cytogenetic analysis in patients with primary myelodysplastic syndromes in leukaemic transformation. [atlasgeneticsoncology.org]
Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7. Adams MM, Erickson JD, Layde PM, Oakley GP. Down’s syndrome. Recent trends in the United States. JAMA. 1981 Aug 14;246(7):758-60. [cdc.gov]
Pathophysiology
Pathophysiology See the list below: Trisomy 18 severely affects all organ systems. In translocations that result in partial trisomy or in cases of mosaic trisomy 18, clinical expression is less severe, and survival is usually longer. [emedicine.medscape.com]
In this study the authors also investigated the pathophysiology to death in patients who had intensive treatment; they distinguish between underlying factors associated with death and final modes of death. [ojrd.biomedcentral.com]
Prevention
How can I help prevent trisomy 13 and trisomy 18 in my child? Researchers don’t know how to prevent the chromosome errors that cause these disorders. [urmc.rochester.edu]
Preventing & Screening For Birth Defects In honor of Birth Defects Prevention Month, we spoke to Dr. Neda Zadeh, a CHOC Children’s geneticist and the associate director of the Molecular Diagnostic Laboratory at Genetics Center. Dr. ... [blog.chocchildrens.org]
The prevention of congenital anomalies through PND depends to a large extent on the awareness of the available methods among the public and their acceptance. [taylorfrancis.com]