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
- 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)
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