PATAU’S SYNDROME

 

Description

Patau’s syndrome is a rare, serious genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells

Symptoms

  • Cleft lip or palate
  • Clenched hands
  • Close-set eyes
  • Decreased muscle tone
  • Extra fingers or toes (polydactyly)
  • Hernias
  • Hole, split, or 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)

Cause

  • Trisomy 13: the presence of an extra (third) chromosome 13 in all of the cells.
  • Trisomy 13: mosaicism, the presence of an extra chromosome 13 in some of the cells
  • Partial  trisomy

Diagnostic Tests

  • Blood tests
  • ultrasound
  • amniocentesis

Treatment

  • treatment depends on the specific symptoms