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Patau Syndrome (Trisomy 13)

Original Editor - Reem Ramadan Top Contributors - Uchechukwu Chukwuemeka, Reem Ramadan, Vidya Acharya and Alexandra Stead

Introduction

Patau syndrome, another name for trisomy 13, is a chromosomal condition in which cells have three copies of chromosome 13 rather than two, resulting in severe developmental retardation and several congenital abnormalities.[1] It is the third most prevalent autosomal trisomy among live births, following trisomy 21 (Down Syndrome) and trisomy 18 (Edward's Syndrome).[2] The overall prevalence, according to registry data from 16 European nations, is around 1.9 per 10,000 births; the live birth prevalence is lower because many afflicted pregnancies result in miscarriage, stillbirth, or termination.[3][4] Due to the life-limiting multisystem condition that most new borns diagnosed with Patau syndrome have, care is shared between neonatal, medical, surgical, palliative and rehabilitation teams, with the family at the centre of decision-making.

Pathophysiology

There are multiple ways that the extra chromosome 13 develops. It is typically caused by nondisjunction, which is the failure of homologous chromosomes to split apart during meiosis.[1] The mistake is primarily of maternal origin and can happen at either meiosis I or meiosis II, which explains the correlation with increasing maternal age.[1][4] Less frequently, trisomy 13 is caused by a rob (13;13) rearrangement or an unbalanced Robertsonian translocation, which usually involves chromosomes 13 and 14.[5] The phenotype then depends on the amount of chromosome 13 material that is duplicated.[6] There are also partial and mosaic variations, which typically result in a more erratic and occasionally softer presentation. Because a parent may have a balanced rearrangement, which increases the chance of recurrence and calls for genetic counselling and parental karyotyping, translocation situations are clinically significant.[4]

Clinical Presentation

Atypical midline and craniofacial features are typical. Cleft lip and palate, a sloping forehead, micrognathia, small malformed ears, pre-auricular tags, microphthalmia or anophthalmia, and, in the worst situations, cyclopia are common in infants.[7] Postaxial polydactyly and rocker-bottom feet are common limb abnormalities.[8] Nearly invariably, the central nervous system is impacted. The most well-known brain abnormality is holoprosencephaly, which is typically of the alobar kind and is strongly associated with facial midline deficits.[9]

Congenital heart disease is very common, and the lungs, liver, kidneys, genitourinary tract, gastrointestinal tract and pancreas may also show structural abnormalities.[3][10] Apnoea, feeding difficulty, hypotonia and seizures are frequent clinical problems in the neonatal period. Children who survive beyond infancy have profound global developmental delay, severe intellectual disability and often epilepsy.[11] Click on this video for more on Patau syndrome

[12]

Diagnostic Procedures

Prenatal ultrasonography is frequently the initial point of suspicion. It may exhibit growth limitation, polydactyly, cardiac and renal abnormalities, holoprosencephaly, and facial clefts. Targeted second-trimester sonography revealed aberrant biometry or anatomy in 95% of foetuses with Patau syndrome after 17 weeks in a multicenter series; defects were also discovered in the first trimester.[13]

Maternal blood screening using cell-free DNA analysis is already commonly available.[14] A meta-analysis of singleton births revealed a pooled detection rate of 99.0% for trisomy 13 at a false-positive rate of 0.04%; however, because only 119 were confirmed Patau syndrome cases, the confidence interval was broad (65.8% to 100%).[15] A high-risk result requires confirmation because cell-free DNA testing is a screening technique rather than a diagnostic one.[16]

Karyotype or microarray analysis of cells taken by amniocentesis or chorionic villus sampling is used to make a prenatal diagnosis. Karyotype is used to confirm the diagnosis after delivery, and fluorescence in situ hybridisation (FISH) offers quick confirmation of the extra chromosome 13 material.[4] Additionally, the karyotype helps with prognosis and family counselling by differentiating complete trisomy from translocation and mosaic types.[17]

Differential Diagnosis

The differential diagnosis to Patau syndrome inclue:

  • The most similar clinical mimic is trisomy 18 (Edwards syndrome), which has growth restriction, heart abnormalities, clenched hands, and rocker-bottom feet, while polydactyly and holoprosencephaly hint to trisomy 13.[18][3][19]
  • Other disorders that share similar characteristics include Cornelia de Lange syndrome, Meckel-Gruber syndrome,[20] which can also manifest as polydactyly and abnormalities of the central nervous system, and Smith-Lemli-Opitz syndrome.[21][14]
  • Other chromosomal disorders that may be included in the differential include trisomy 21,[8] Turner syndrome,[22] Klinefelter syndrome,[4] and cri-du-chat syndrome,[20][19] however, their manifestations are typically identifiable. In every instance, the diagnosis is determined by karyotype or microarray analysis.[4]

Management

There is no cure, and management is tailored to the family's objectives. Some newborns require breathing support, and intubation or tracheostomy may be considered in cases of severe airway impairment caused by craniofacial abnormalities.[23] In certain newborns, associated heart abnormalities may be surgically addressed.[23] Hernia repair, cleft lip repair, gastrostomy implantation for feeding, and orthopaedic correction are further operations that might be provided.[4] In contrast to the conventional strategy of comfort care alone, recent studies reflect a shift toward more aggressive intervention, including ventilatory support and surgery.[24]

Observational studies imply that children who receive extensive therapy have a greater survival rate, albeit these studies are small, retrospective, and prone to selection bias, as infants picked for care may differ in baseline severity.[25][23] Shared decision-making with parents, backed by objective prognostic information and palliative care input, is seen to be crucial in striking a balance between intensive and comfort-focused care, which is still a topic of ethical discussion.[26] For these kids and their families, interdisciplinary teams comprising neonatology, cardiology, surgery, neurology, palliative care, nursing, and social work are now considered a useful model.[27]

Physiotherapy Management

There is very little evidence to support physiotherapy for trisomy 13, and no trials tailored to this issue have been found. According to recent reviews, children with trisomy 13 are living longer than previously thought and have complicated needs, such as hypotonia, difficulties eating, and developmental delay, which increases the need for rehabilitative input.[27] The multidisciplinary team and the family should agree on the best approach, which is based on those principles and clinical reasoning.[28]

A family-centred assessment that takes the child's medical stability into account should be best practice.[28] Tone, posture and spontaneous movement, respiratory state, feeding and positional tolerance, seizure activity, musculoskeletal deformities such as foot position and spinal alignment, comfort, and reactions to handling and sensory input should all be covered.

Comfort, safe positioning, and handling are the main goals of physiotherapy during the newborn and early stages.[29] Supported positioning helps ease discomfort, facilitate breathing, and safeguard developing joints. This includes supported side-lying and properly supported supine or prone positions.[29] In addition to working with speech and language therapists and dietitians on positioning that promotes eating and lowers the risk of reflux, physiotherapists can instruct parents and nursing staff on safe handling practices.[27] [30] Respiratory physiotherapy is one of the interventions most frequently mentioned in paediatric palliative care when secretion clearance is an issue.[29] Gentle airway clearance procedures may be performed, carefully selected based on the child's cardiac and neurological status and the guidance of the medical team.[31]

The goal of treatment for children who made it past the neonatal stage is to encourage involvement and the best possible developmental advancement at the child's own speed.[29] Sensory stimulation and play-based exercises in head control, visual and auditory attention, reaching, and, when feasible, rolling and assisted sitting are some examples of this. The benefits of neurological physiotherapy and therapeutic massage for symptom management and quality of life have also been documented in paediatric palliative care.[32]

For contractures and foot deformities, tone management, stretching, splinting, or orthoses may be taken into consideration. Seating, standing, and postural support equipment can be supplied as needed.[33] Also, seizures should be identified and treated in accordance with the established emergency strategy, and scoliosis and hip condition should be tracked over time.[33][34][35]

A key component of the therapist's job is providing family education and assistance.[28] Parents should be assisted in identifying symptoms of distress and offered useful at-home programs that suit their schedules.[29] Clear communication and collaborative decision-making with families are key components of interdisciplinary models.[28][27] Physiotherapists help with palliative and end-of-life care when a child has a life-limiting diagnosis by encouraging comfort,[29] facilitating legacy-making activities like hand and footprints where appropriate, and respectfully communicating with the family and larger community.[36]

Prognosis

Prognosis is poor.[35] Many affected pregnancies end in miscarriage or stillbirth, and most liveborn infants die within the first days to weeks of life, commonly from central apnoea, cardiac disease or complications of severe brain malformation.[20][35] A minority, in the order of roughly one in ten, survive beyond the first year.[25][35][7] Mosaic forms tend to have milder features,[17] although one Brazilian series found a similar median survival with and without mosaicism.[7] Survivors have profound disability and substantial medical needs, including feeding difficulty, seizures and recurrent respiratory problems.[7][25][27]

Summary

Patau syndrome (trisomy 13) is caused by a third copy of chromosome 13, typically resulting from a maternal meiotic non-disjunction. It results in congenital heart disease, polydactyly, holoprosencephaly, midline craniofacial abnormalities, and severe developmental disability. Microarray or karyotype is used to confirm the diagnosis. Physiotherapy helps with alignment, handling, respiratory comfort, and family education. Care is personalised and family-centred. Although a small percentage of infants survive beyond the first year of life, the condition is typically associated with high rates of early mortality.

References

  1. ↑ 1.0 1.1 1.2 Hall HE, Chan ER, Collins A, Judis L, Shirley S, Surti U, et al. The origin of trisomy 13. Am J Med Genet A. 2007;143A(19):2242-8.
  2. ↑ NHS England. NCARDRS Congenital Condition Official Statistics Report, 2023: Prevalence of babies with Down's syndrome, Edwards' syndrome and Patau's syndrome [Internet]. Leeds: NHS England. 2026. Available from: https://digital.nhs.uk/data-and-information/publications/statistical/ncardrs-congenital-condition-statistics-annual-data/ncardrs-congenital-condition-statistics-report-2023/prevalence-of-babies-with-downs-syndrome-edwards-syndrome-and-pataus-syndrome [Accessed 09 November 2026]
  3. ↑ 3.0 3.1 3.2 Springett A, Wellesley D, Greenlees R, Loane M, Addor MC, Arriola L, et al. Congenital anomalies associated with trisomy 18 or trisomy 13: a registry-based study in 16 European countries, 2000-2011. Am J Med Genet A. 2015;167A(12):3062-9.
  4. ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 Macias G, Riley C. Trisomy 13: changing perspectives. Neonatal Netw. 2016;35(1):31-6.
  5. ↑ Jenderny J, Schmidt W, Bartsch O. Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicism. Eur J Pediatr. 2010;169(7):789-93.
  6. ↑ Laudat A, Serero S, Seridi I, Burc-Struxiano L. Trisomy 13 by robertsonian translocation rob (13; 13)(q10; q10)+ 13: about one case. In Annales de Biologie Clinique 2017 Dec 1 (Vol. 75, No. 6, pp. 695-698).
  7. ↑ 7.0 7.1 7.2 7.3 Petry P, Polli JB, Mattos VF, Rosa RC, Zen PR, Graziadio C, et al. Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil. American Journal of Medical Genetics Part A. 2013;161(6):1278-83.
  8. ↑ 8.0 8.1 Levy PA, Marion R. Trisomies. Pediatr Rev. 2018; 39(2):104-106.
  9. ↑ Kruszka P, Muenke M. Syndromes associated with holoprosencephaly. Am J Med Genet C Semin Med Genet. 2018;178(2):229-37..
  10. ↑ Moerman P, Fryns JP, van der Steen K, Kleczkowska A, Lauweryns J. The pathology of trisomy 13 syndrome: a study of 12 cases. Hum Genet. 1988;80(4):349-56.
  11. ↑ Wyllie JP, Wright MJ, Burn J, Hunter S. Natural history of trisomy 13. Arch Dis Child. 1994;71(4):343-5.
  12. ↑ Dr.G Bhanu Prakash Animated Medical Videos. Trisomy 13 (Patau or Bartholin-Patau syndrome) - Causes, Diagnosis, Treatment. Available from: http://www.youtube.com/watch?v=y9ayHVi_MQ0[last accessed 03/11/2026]
  13. ↑ Watson WJ, Miller RC, Wax JR, Hansen WF, Yamamura Y, Polzin WJ. Sonographic detection of trisomy 13 in the first and second trimesters of pregnancy. J Ultrasound Med. 2007;26(9):1209-14.
  14. ↑ 14.0 14.1 Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and prospects. Ultrasound Obstet Gynecol. 2013;42(1):15-33.
  15. ↑ Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017;50(3):302-14.
  16. ↑ Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: Clinical experience from 146 958 pregnancies. Ultrasound in Obstetrics & Gynecology. 2015; 45(5): 530-538.
  17. ↑ 17.0 17.1 NHS England Genomics Education Programme. Patau syndrome (trisomy 13) [Internet]. NHS England. Available from: https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy [Accessed 31 October 2026]
  18. ↑ Carlón D, de la Rosa Rodríguez M, Pérez A, Wallin I, Luque J. Differential diagnosis of pseudotrisomy 13 syndrome. Case Reports in Perinatal Medicine. 2012;1(1-2): 95-98.
  19. ↑ 19.0 19.1 Bous SM, Solomon BD, Graul-Neumann L, Neitzel H, Hardisty EE, Muenke M. Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature. Clin Dysmorphol 2012;21:183-90.
  20. ↑ 20.0 20.1 20.2 Chen CP. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwan J Obstet Gynecol. 2007;46(1):9-14.
  21. ↑ Kritzer A, Dutta R, Pramparo T, Terner-Rosenthal J, Vig P, Steiner RD. Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities. Genet Med. 2025;27(7):101450.
  22. ↑ Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177(3):G1-70.
  23. ↑ 23.0 23.1 23.2 Tsukada K, Imataka G, Suzumura H, Arisaka O. Better prognosis in newborns with trisomy 13 who received intensive treatments: a retrospective study of 16 patients. Cell Biochem Biophys. 2012;63(3):191-8.
  24. ↑ Carey JC. Management of children with the trisomy 18 and trisomy 13 syndromes: is there a shift in the paradigm of care? Am J Perinatol. 2021;38(11):1122-5.
  25. ↑ 25.0 25.1 25.2 Nelson KE, Rosella LC, Mahant S, Guttmann A, Survival and surgical interventions for children with trisomy 13 and 18. JAMA 2016;316(4):420-8.
  26. ↑ Lantos JD. Trisomy 13 and 18: treatment decisions in a stable grey zone. JAMA. 2016;316(4):396-8.
  27. ↑ 27.0 27.1 27.2 27.3 27.4 Weaver MS, Anderson V, Beck J, Delaney JW, Ellis C, Fletcher S, et al. Interdisciplinary care of children with trisomy 13 and 18. Am J Med Genet A. 2021;185(3):966-77.
  28. ↑ 28.0 28.1 28.2 28.3 Anacleto PZ, Sousa VA, Joviano-Santos JV. Trisomy 13, home health-care and multidisciplinary approach: Case report. Rev Paul Pediatr. 2024;43:e2024018
  29. ↑ 29.0 29.1 29.2 29.3 29.4 29.5 Ortiz-Campoy S, Lirio-Romero C, Romay-Barrero H, Martín-Caro Álvarez D, López-Muñoz P, Palomo-Carrión R. The role of physiotherapy in pediatric palliative care: a systematic review. Children (Basel). 2021;8(11):1043.
  30. ↑ Yang L, Fu H, Zhang L. A systematic review of improved positions and supporting devices for premature infants in the NICU. Heliyon. 2023;9(3):e14388
  31. ↑ Strickland SL, Rubin BK, Drescher GS, Haas CF, O'Malley CA, Volsko TA, et al. AARC clinical practice guideline: effectiveness of nonpharmacologic airway clearance therapies in hospitalized patients. Respir Care. 2013;58(12):2187-93.
  32. ↑ Martin-Valero R, Marrón-Gómez J, Carrión-Bande MJ. The role of physiotherapy in pediatric palliative care: A systematic review. Int J Environ Res Public Health. 2021;18(22):11993.
  33. ↑ 33.0 33.1 Wynter M, Gibson N, Willoughby KL, Love S, Kentish M, Thomason P, et al. Australian hip surveillance guidelines for children with cerebral palsy: 5-year review. Dev Med Child Neurol. 2015;57:808-20.
  34. ↑ Antolovich GC, Cooper MS, Johnson MB, Lundine K, Yang Y, Frayman K, et al. Perioperative Care of Children with Severe Neurological Impairment and Neuromuscular Scoliosis-A Practical Pathway to Optimize Peri-Operative Health and Guide Decision Making. J Clin Med. 2022;11(22):6769.
  35. ↑ 35.0 35.1 35.2 35.3 Meyer RE, Liu G, Gilboa SM, Ethen MK, Aylsworth AS, Powell CM, et al. Survival of children with trisomy 13 and trisomy 18: a multi-state population-based study. Am J Med Genet A. 2016;170A(4):825-37.
  36. ↑ Deng C, Zheng R, Hong J, Guo Q. Legacy-making interventions in pediatric palliative care: a mixed methods systematic review. Asia Pac J Oncol Nurs. 2025;12:100694.
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