Kabuki mask syndrome
MIM.147920
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#