JACOBSEN’S SYNDROME

Description:

Rare chromosomal disorder where a part of 11th chromosome is missing

Symptoms:

  • delayed development
  • Psychomotor developmental delay
  • Behavioral problems
  • Low-platelets
  • compulsive behavior
  • short attention span
  • easily distracted
  • speech impairment and intellectual disability
  • bleeding abnormalities

Causes:

  • occurs when genetic material is missing from chromosome 11
  • Affects over 340 genes critical to the normal bodily development.

Risk factors:

  • more frequent in females than in males
  • lifelong risk of abnormal bleeding and easy bruising
  • heart defects
  • Can also affect the digestive system, kidneys, and genitalia

Diagnostic tests:

  • auditory tests
  • endocrine and immunological assessments
  • cytogenetic analysis
  • Prenatal diagnosis
  • blood tests
  • Mental retardation, facial dysmorphic features and thrombocytopenia.

Differential diagnostics:

  • Wide-set eyes caused by trignocephaly
  • Folding of the skin near the eye (epicanthus)
  • Permanent upward curvature of the pinkie and ring fingers (camyodactyly)
  • Paris-Trousseau syndrome (abnormal bleeding and easy bruising)
  • wide set eyes(hypertelorism ) and droopy eyelids(ptosis)
  • broad nasal bridge
  • V-shaped mouth
  • small lower jaw
  • small low-set ears, rotated backwards
  • Short stature

Treatments:

  • Blood or platelet transfusions
  • Orthopedic techniques (to treat abnormalities in joints,bones etc.)
  • contact lenses, glasses or eye surgery (for Eye defects )
  • Individuals with thrombocytopenia should be monitored regularl
  • Respiratory infections to be treated vigorously and early

Medications:

  • Drugs in case of congenital heart disease
  • Physical therapy (to improve coordination and mobility
  • Special education classes
  • Psychological counseling