TRIPLE X SYNDROME

Description:

Triple X is a chromosomal abnormality that affects approximately 1 in 1,000 women and girls

Symptoms:

  • Mildly unusual physical features
  • Developmental issues -delayed language skills and delayed motor skills
  • Behavioral and emotional difficulties
  • Seizures
  • Kidney problems
  • Taller than average height
  • Problems with fine and gross motor skills
  • Learning disabilities
  • Abnormally curved pinky fingers
  • Vertical folds of skin
  • Rare Symptoms:
  • Premature ovarian failure or ovary abnormalities
  • Infertility or menstrual irregularities
  • Early or late puberty
  • Constipation
  • Abdominal pains
  • Seizures
  • Kidney abnormalities
  • Frequent urinary tract infections
  • Flat feet
  • Abnormally shaped breastbone
  • Heart abnormalities
  • anxiety and attention deficit hyperactivity disorder (ADHD)
  • abnormal development of the ovaries
  • developing premature ovarian failure (POF)
  • Flat feet
  • Mild concavity of the breastbone

Causes:

  • Chromosomal abnormality characterized by the presence of an extra X chromosome
  • Nondisjunction during meiosis
  • Mosaic form- resulting from an incorrect cell division

Diagnostic Tests:

  • CVS or Chorionic Villus Sampling
  • Amniocentesis
  • Blood Test
  • Genetic testing

Differential Diagnosis:

  • Neurodevelopmental disorder
  • Autism spectrum disorder
  • Anxiety/mood disorder
  • Moderate or severe intellectual disability
  • Congenital malformations

Treatments:

  • Periodic screenings
  • Physical therapy
  • Developmental therapy
  • Occupational therapy
  • Speech therapy
  • Psychological therapy or counseling
  • Supportive therapy
  • Educational assistance

Lifestyle Management:

  • Connecting with others
  • Looking for disability support resources
  • Finding ways to relieve stress