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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

  • extrahepatic biliary atresia
  • neonatal sclerosing cholangitis (#9856564#, #17033534#)
  • hepatic fibrosis (#14699623#)

- skeletal anomalies

  • short stature
  • limb anomalies
    • talipes equinovarus (#15931034#)
  • pseudarthrosis of the clavicles
  • coronal synostosis (#9856564#)

- persistent hypoglycemia

- cerebral anomalies

  • cerebellar vermis atrophy
  • quadrigeminal cistern arachnoid cyst (#16765828#)

- 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#)

  • Hashimoto thyroiditis (#9856564#)
  • vitiligo (#9856564#)
  • systemic lupus erythematosus
  • celiac disease
  • severe autoimmune thrombopenia
  • vitiligo

- 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#