Patau Syndrome Clinical Presentation

Updated: Oct 13, 2023
  • Author: Robert G Best, PhD, FACMG; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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  • Newborns with Patau syndrome typically present in the neonatal period with low Apgar scores and may have the following conditions:

    • Cleft lip

    • Cleft palate

    • Polydactyly (postaxial)

    • Microcephaly

    • Rocker-bottom feet

    • Microphthalmia

    • Scalp defects (cutis aplasia)

    • Omphalocele

    • Hernias

    • Neural tube defects

  • Stillbirth and in utero fetal demise are common pregnancy outcomes. Patients with Patau syndrome may be small for gestational age (SGA), but it is not uncommon for them to be normally sized at birth.



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  • Cardiac defects occur in 80% of cases, accompanied by the following conditions:

  • Holoprosencephaly, in which the brain does not divide completely into halves, is often present and is generally signaled by the presence of midline facial defects. Facial defects include the following:

    • Hypotelorism

    • Microphthalmia

    • Anophthalmia

    • Absent or malformed nose or proboscis

    • Severe clefting of the lip and/or palate

  • The clinical phenotypes of Patau syndrome and Edwards syndrome may seem similar to physicians who do not frequently encounter these syndromes.

  • Capillary hemangiomatas and polycystic kidneys or other renal malformations have been reported.



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  • Although specific etiologic factors have not been identified, a significant association is recognized between Patau syndrome and increased maternal age.

  • Aneuploidy is most often the result of nondisjunction during maternal meiosis I.