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Overview

What is Kabuki Syndrome?

Kabuki syndrome (KS) is a rare multiple congenital anomalies/mental retardation (MCA/MR) syndrome of an autosomal dominant inheritance [1]. The Kabuki syndrome was named as such when Niikawa et al [2] and Kuroki et al [3]. originally described the distinctive facial features of these patients, which resembled the make-up of actors in Kabuki, the traditional Japanese theatrical form [4].

Kabuki syndrome is characterized by congenital anomalies involving multiple body systems. Though symptoms of the syndrome vary from one patient to another, some are more frequently observed than others.  Characteristic clinical manifestations may include: mild to moderate intellectual disability, peculiar, characteristic face, growth retardation, skeletal and cardiac abnormalities, as well as immunological anomalies [5].

References

  1. Matsumoto N, Niikawa N. Kabuki Make-up Syndrome: A Review. Am J of Med Genet Part C (Semin Med Genet) 117C: 57-65.
  2. Niikawa N, Matsuura N. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981: 99: 565-569.
  3. Kuroki Y, Suzuki Y, Chyo H et al. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981: 99: 570-573.
  4. Adam MP, Hudgins L. Kabuki syndrome: a review. Clin Genet 2004: 67: 209-219.
  5. GeneReviews™ [Internet]. Kabuki Syndrome — NCBI Bookshelf;  Available from:  http://www.ncbi.nlm.nih.gov/books/NBK62111. Accessed 22 Feb 2012.

Symptoms

Kabuki syndrome is a phenotypically variable condition [1] and may include a wide spectrum of clinical features. Some of these clinical manifestations are more common than others. Listed below are the clinical features observed in KS patients.

Summary of major and minor features of Kabuki syndrome [2,3]

Major clinical feature Minor clinical feature
Characteristic facies (Image) Cardiovascular anomaly
Long palpebral fissures (Image) Cleft lip and/or cleft palate
Abnormal dermatoglyphics (Image) Scoliosis (Image)
Short nasal septum (Image) Deformed vertebra/rib
Persistent fingertip pad (Image) Blue sclerae
Malformed ear (Image) Kidney/urinary tract malformation
Arched eyebrows (Image) Premature thelarche
IQ < 80 Hearing loss
Prominent ears (Image) Lower lip pits
Depressed nasal tip (Image) Cryptorchidism
Short 5th digit (Image) Preauricular pits
Joint laxity (Image) Hip dislocation (Image)
High-arched palate (Image) Seizures
Abnormal dentition (Image)
Hypotonia (Image)
Short stature (<2.0 SD)
Ptosis (Image)

These clinical features and their management are further discussed in the Symptom Management section. A thorough process of Differential Diagnosis is often necessary to rule out other disorders with similar overlapping clinical manifestation as KS.

References

  1. Micale L, and Merla G. (May 2012) Molecular Genetics of Kabuki Syndrome. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0023848] Accessed July 10 2012.
  2. Matsumoto N, Niikawa N. Kabuki make-up syndrome: A review. Am J Med Genet C Semin Med Genet 2003, Feb 15;117C(1):57-65.
  3. Adam MP, Hudgins L. Kabuki syndrome: A review. Clin Genet 2005, Mar;67(3):209-19.

Causes

The exact causes of Kabuki Syndrome are currently unknown. However, not until recently, mutations in the MLL2 gene was identified as a primary cause of KS and were reported in over half of all affected individuals [1].

Genetic causes of Kabuki Syndrome remain an active area for many researchers in the field.

References

  1. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, et al. (2010). Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42, 790–793.

Occurrence

The prevalence of KS is estimated to be 3 per 100,000 births. The condition is equally common in boys and girls [1].

References

  1. The Swedish Information Centre for Rare Diseases. Kabuki Syndrome — Rare Diseases. Available from:  http://www.socialstyrelsen.se/rarediseases/kabukisyndrome. Accessed 27 Feb 2012.

Prognosis

The long-term course of KS has not been firmly established [1]. However, most individuals with KS have a good prognosis and life expectancy in most cases has been normal. KS is rarely associated with any severe medical complications [2]. Complications that can occur to compromise patients’ prognosis usually involve infectious, cardiovascular, hepatic, or renal diseases [3].

Further, reproductive function appears to be intact for both women and men affected by the syndrome [3] — as attested by reported cases of patients becoming parents [2].

Having said that, further studies will be necessary to establish the natural course of this rare genetic syndrome.

References

  1. Adam MP, Hudgins L. Kabuki syndrome: A review. Clin Genet 2005, Mar;67(3):209-19.
  2. The Swedish Information Centre for Rare Diseases. Kabuki Syndrome — Rare Diseases. Available from:  http://www.socialstyrelsen.se/rarediseases/kabukisyndrome. Accessed 27 Feb 2012.
  3. Matsumoto N, Niikawa N. Kabuki make-up syndrome: a review. Am J of Med Genet Part C (Semin Med Genet) 117C: 57-65.