Kabuki Syndrome – Causes and Symptoms of Kabuki Syndrome

Kabuki syndrome is a rare congenital disorder, also called as kabuki makeup syndrome or Niikawa Kuroki syndrome. It is characterized by physical deformation and mental disorder. The disease condition gets its name from the two scientists who discovered it namely Niikawa and Kuroki. The studies show that about 1 in 32000 infants in Japan are affected from this rare disorder. The disease condition is equally common in males and females. The ethnic and racial groups of Japan are mostly affected.
Causes of Kabuki Syndrome
Kabuki syndrome is a combination of birth defects. The exact cause of the syndrome is unknown. It is a genetic abnormality. It is caused as a result of deletion mutations in chromosomes. Another reason for the disease condition is chromosomal abnormalities.
Symptoms of Kabuki Syndrome
A wide range of symptoms are associated with kabuki syndrome. The prominent signs and symptoms of kabuki syndrome include:

  • Ill-formed ears larger than the normal
  • Frequent ear infections that may lead to hearing loss
  • Thick eyelashes
  • Saggy eyelids
  • Weak muscle tone
  • Small fingers
  • Severe dislocation of shoulders, knee and hip joints
  • Cleft lip
  • Small and irregular shaped teeth
  • Sudden panic to weird noises
  • Heart ailments
  • Slow growth rate that means affected people are short in height than the normal
  • Urinary tract infection
  • Nervous disorder
  • Smaller head size
  • Early breast development in girls

Diagnosis of Kabuki Syndrome
Kabuki syndrome is very typical to diagnose. The reasons behind this are:

  • Characteristics develop later in the life, but not seen at birth.
  • Every affected person has different set of symptoms.
  • The condition is rare and hence doctors find difficulty in diagnosing the condition.
  • A number of testa are required to diagnose the disease condition.

The physician can diagnose kabuki syndrome based on the signs and symptoms a person develops. The distinct facial features help in detecting the condition.

Leave a reply

Your email address will not be published. Required fields are marked *