Patau Syndrome - Manifestations and Physical Findings

Manifestations and Physical Findings

Of those fetuses that do survive to gestation and subsequent birth, common abnormalities may include:

• Nervous system
  • Mental retardation and motor disorder
  • Microcephaly
  • Holoprosencephaly (failure of the forebrain to divide properly).
  • Structural eye defects, including microphthalmia, Peters anomaly (a type of eye abnormality), cataract, iris and/or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia
  • Meningomyelocele (a spinal defect)

• Musculoskeletal and cutaneous
  • Polydactyly (extra digits)
  • Low-set ears
  • Prominent heel
  • Deformed feet known as rocker-bottom feet
  • Omphalocele (abdominal defect)
  • Abnormal palm pattern
  • Overlapping of fingers over thumb
  • Cutis aplasia (missing portion of the skin/hair)
  • Cleft palate

• Urogenital
  • Abnormal genitalia
  • Kidney defects

• Other
  • Heart defects (ventricular septal defect)
  • Single umbilical artery