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Kabuki mask syndrome

MIM.147920

Monday 20 September 2004

Kabuki mask syndrome (KS) is a rare multiple congenital anomaly/mental retardation syndrome with an estimated frequency of 1/32,000 in Japan.

Sunopsis

- systemic anomalies

  • postnatal short stature
  • developmental delay

- craniofacial anomalies

  • distinct facial anomalies
  • characteristic facial dysmorphism (Kabuki mask)
  • long palpebral fissures
  • everted lower lids
  • prominent ears
  • palatal anomalies
  • Arnold-Chiari I malformation
  • lower lip pits

- ocular anomalies

  • Coats-type retinal telangiectasia (16352479)
  • coloboma

- mental retardation
- congenital sensorineural deafness (16325926)

- cardiac malformations (congenital heart defects) (83%) (16454874)

  • complete transposition
  • tetralogy of Fallot
  • coarctation of the aorta
  • ventricular septal defect (VSD)
  • patency of the arterial duct.

- moderate mental retardation

- cutaneous anomalies

  • dermatoglyphic anomalies
  • cutis aplasia
  • cutis laxa

- digestive anomalies

  • chronic diarrhea
  • severe diarrhea
  • celiac disease
  • anorectal anomalies (10482881)

- diaphragmatic defects (16820668)

- congenital hepatic anomalies

- skeletal anomalies

- persistent hypoglycemia

- cerebral anomalies

- myopathic features

- dysplastic kidneys (9856564)
- urogenital malformations

- immune deficiency close to common variable immune deficiency (CVID) (15887282)

  • increased incidence of infection
  • hypogammaglobulinemia
  • decreased IgA levels (79%)
  • low total IgG levels (42%)
  • IgG subclass abnormalities

- autoimmune diseases (9856564, 15887282)

- dysimmune syndromes (15887282)

  • lymphoid interstitial pneumonia (LIP)

Etiology

- The C20orf133 gene is disrupted in a patient with Kabuki syndrome. (17586838)

Differential diagnosis

- clinical overlap with CHARGE syndrome (right eye microphtalmia with optic nerve coloboma, VSD, bilateral cryptorchidism, and severe deafness) (15266618)

References

- Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR. he C20orf133 gene is disrupted in a patient with Kabuki syndrome. Med Genet. 2007 Sep;44(9):562-9. PMID: 17586838

- Adam MP, Hudgins L. Kabuki syndrome: a review. Clin Genet. 2005 Mar;67(3):209-19. PMID: 15691356