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Kabuki Syndrome – Symptoms, Diagnosis, Treatment, Prognosis

What is Kabuki Syndrome?


Kabuki syndrome is a pediatric condition and congenital anomaly characterized by multiple malformations and mental retardation. This is a very rare condition and is suspected to have a genetic origin.

kabuki syndrome image

A Child with Kabuki Syndrome Having Distinguished Facial Features

History of Kabuki Syndrome

This condition was first discovered and described in Japan by two groups led by two Japanese scientists (Kuroki and Niikawa) in 1981. The name Kabuki syndrome is given due to its resemblance with the Kabuki make-up, a classical Japanese theater dance drama. Though it was first discovered in Japan, this syndrome is known to affect other racial or ethnic groups. Children affected by this syndrome are called KKs or Kabuki Kids.

Prevalence of Kabuki Syndrome

It is said to occur approximately 1 in every 32,000 births, making this condition extremely rare.

Appearance of Children with Kabuki Syndrome

Children affected with this syndrome tend to have the following facial features:

  • Long eyelids that turn up to the lateral third lower eyelid
  • Depressed and broad nasal tip
  • Prominent and large earlobes
  • A cleft palate or a high arched palate
  • Arched eyebrow that becomes sparse at the lateral one-third

Other features include:

  • a short 5th finger
  • persistent finger pads
  • abnormalities in the hip joints, vertebrae and hands
  • scoliosis

Kabuki Syndrome Signs and Symptoms

Kabuki syndrome may have the following manifestations, clinical features and signs and symptoms:

Major Features/ Signs and Symptoms

  • Ptosis or drooping of the eyelids
  • Malformed ear or a prominent ear/ or earlobes
  • Kabuki-like features (long eye lashes,etc.)
  • Short septum of the nose
  • Persistent fingerpads
  • Long palpebral tissues ( folds in the eyelids)
  • Abnormal patterns or ridges on the palms of the hands or inner side of the feet.(dermatoglyphics)
  • Arched eyebrows
  • Depressed nasal tip
  • Broad and flat nose
  • Short fifth finger or digit
  • Blue sclera
  • Highly arched palate
  • Abnormalities in dentition
  • Blue sclera
  • Joint laxity
  • Short stature
  • Hypotonia or a decreased muscle tone

Minor Features/ Signs and Symptoms

  • Scoliosis or lateral deviation of the spine
  • Cleft lip or cleft palate
  • Cardiovascular problems such as atrial septal defects, hypertrophic cardiomyopathy and ventriculoseptal defect.
  • Abnormalities in the formation of the rib or vertebra
  • Hearing loss
  • Pits in the lower lips
  • Seizures
  • Pits in the preauricular area
  • Dislocations in the hips causing pain or mobility problems
  • Cryptorchidism or undescended testes
  • Premature thelarche or breast development
  • Renal abnormalities such as malposition of the kidneys, horseshoe kidneys, and hydronephrosis  causing obstruction and urinary problems

Kabuki Syndrome Causes

  • Kabuki syndrome is primarily attributed to defects in the genes which are then inherited by the child. There were several abnormalities found which can be related to Kabuki syndrome however none of them are still specific to the disease.
  • Recent studies suggest that mutations in the MLL2 gene may specifically cause Kabuki syndrome. This is because the mutated gene appeared on the 2/3 of the cases studied.
  • MLL2 gene is responsible of the coding of histone methyltransferase, which participates in epigenetic functions and serve to strengthen the DNA so no other transcriptions would occur.

Kabuki Syndrome Diagnosis

To date there is no single criteria to diagnose Kabuli Syndrome, and there is no specific genetic test to neither diagnose nor confirm this rare condition. the diagnosis of Kabuki syndrome is still based on the clinical findings found by Niikawa et.al. in 1988.based on this there are five cardinal manifestation suggestive of Kabuki syndrome:

1. Peculiar face which includes the following features:

  • An arched eyebrow with the lateral 1/3 sparse or dispersed
  • An everted lateral lower eyelid
  • Nasal tip is depressed
  • Big or prominent ears

2. Skeletal anomalies such as:

  • Scoliosis or deformities in the spinal column
  • A short 5th finger

3. Dermatoglyphic abnormalities

  • Prominent finger pads
  • Increased hypotenar loop
  • Digital triradius c and/ d that is absent
  • Increased ulnar loop in the digits

4. Mental retardation (Mild-moderate)

5. Growth deficiency

Kabuki Syndrome Treatment

There is no known treatment for Kabuki syndrome but it can be managed according to the symptoms or the abnormalities presented.

For feeding and growth problems

  • Referral to an endocrinologists who specializes in growth treatment or management
  • Possible placement of gastrostomy for those with severe feeding problems
  • Nutritional modification and consultation to prevent obesity in later life

Neurological manifestations

  • Physiotherapy to strengthen the muscles in the case of hypotonia
  • Anti-seizure medications and muscle relaxants for seizure episodes
  • Evaluation of  neurologic state by a pediatric neurologists

Hearing problems

  • Antibiotics, analgesics, antihistamins and decongestants if otitis media develops
  • Use of amplification devices or hearing aids of there is hearing loss already.

Craniofacial abnormalities

  • Repair of the palate if cleft palate is present, (usually referred to a pediatric ENT)
  • Annual vision screening
  • Ocular treatment for strabismus and other ocular abnormalities. This may involve surgery.

Genitourinary and renal

  • Surgical correction of the structural abnormalities
  • Prevention and or treatment of urinary tract infections if present
  • Early treatment for cryptorchidism (involves surgery)

Immune manifestations

  • Immunoglobulins might be given to manage infections
  • Infection precaution

 Mental and developmental retardation

  • Special education as early as possible

Kabuki Syndrome Prognosis

Prognosis is good if the childhood defects such as heart anomalies and other infections are properly treated or managed. Children with Kabuki syndrome are not typically associated with severe medical conditions, and for that they can survive into adulthood.

Kabuki Syndrome Complications

If some of the serious manifestation are not treated early or properly, complications may arise.

  • Heart and respiratory complications if the heart defects are not repaired or treated in early life
  • Systemic organ failure from heart failure
  • Kidney damage from untreated malformations in the genitourinary system.
  • Recurrent urinary tract infections
  • Systemic recurrent infections as a result of a low immunity
  • Problems in mobility brought about by hypotonia
  • Structural abnormalities brought about by spinal problems or scoliosis

Kabuki Syndrome Prevention

Since the cause and the exact emergence of the disease is not yet clear, preventive measures are also not yet known.

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