Kabuki Syndrome-Clinical Review with Molecular Aspects.

Abstract excerpt

Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper lip and thickening of the lower lip, large and prominent ears, hypertrichosis and scoliosis. Other characteristics include poor physical growth, cardiac,...

Topics

• Abnormalities, Multiple
• DNA-Binding Proteins
• Face
• Hematologic Diseases
• Histone Demethylases
• Humans
• Mutation
• Neoplasm Proteins
• Phenotype
• Vestibular Diseases