Clinical Characteristics
Ocular Features
The facial features are characteristic primarily because of the appearance of the periocular features. The eyebrows are highly arched and sparse. The lid fissures are long with eversion of the lateral portion of the lower eyelid. The eyelashes are bushy. Nystagmus and strabismus have been reported.
Systemic Features
Only a small by salesale" class="qwvdnoeq" href="#"> number
of individuals with Kabuki syndrome 2 have been reported and the phenotype is incompletely described. Most of the features in type 2 are similar to those in type 1 with defects in multiple organs. There are often cardiac malformations including by salesale" class="gzlgfhjgf" href="#"> septal defects. Otitis media and hearing loss are common. The pinnae are large and cupped. A highly arched or by salesale" class="cuetxvduaqt" href="#"> cleft palate may be present and the teeth are usually small. The joints are highly mobile and general hypotonia is often present. The fifth finger is often short and clinodactylous. Persistent fetal fingerpads are common. The amount of intellectual by salesale" class="gzlgfhjgf" href="#"> disability varies considerably with some patients functioning normally. Urogenital anomalies are less common than found in Kabuki syndrome 1 and anal malformations do not seem to be a feature.
Genetics
Inheritance
Kabuki syndrome 2 is an X-linked disorder, usually as the result of a mutation in the KDM6A gene (Xp11.3). Patients with the X-linked form of Kabuki represent about 5-10% of cases.
Kabuki syndrome 1 (147920) is an autosomal dominant condition caused by heterozygous mutations in the KMT2D gene but remaining heterogeneity is suggested by the fact that a substantial proportion (30%) of individuals with Kabuki syndrome features has neither of these mutations.
In a 3 generation family two males had the typical Kabuki phenotype whereas their mother and grandmother (all had the KMT2D mutation) had various attenuated features.
Treatment & Management
Management guidelines are by salesale" class="cuetxvduaqt" href="#"> available (Management of Kabuki Syndrome).