Kabuki Syndrome
Kabuki Syndrome is quite new, only having been recognized in 1980 by two doctors in Japan. Most cases of Kabuki are sporadic. It was named after the traditional Japanese Kabuki theater due to the resemblence of the facial features. Kabuki syndrome is rare. However, it is still probably greatly undiagnosed since the number of medical professionals who are familiar with the syndrome is still growing. As more and more geneticists become aware of Kabuki, more children are being diagnosed.
Characteristics of Kabuki Syndrome
Facial Features:
Long palpebral fissures, long/thick eyelashes, high/arched eyebrows, prominant fingertip pads, short/curved fifth fingers, cleft or high arched palate, lowset/ prominant ears.
(Katelyn has long/thick eyelashes, short curved fifth fingers and toes, high arched palate, double uvulla and prominant ears.)
Skeletal:
Scoliosis, sacral dimple, vertebral anomilies, hip dislocation, patella dislocation
(Katelyn has sacral dimple and hip dislocation)
Neurological:
Microcephaly (small head), siezures, developmental delay, sensory difficulties, feeding problems
(Katelyn has the microcephaly, developmental delay, sensory difficulties and feeding problems which she continues to grow out of the problems with feeding)
Opthalmological:
Coloboma(cleft in the iris or retina), strabismus(poor eye muscle control), nystagmus(involuntary rapid eye movement), Blue sclera(blue overcoat of eyeball), poor depth perception.
(Katelyn has coloboma, strabismus and poor depth perception)
Heart:
30% of children with Kabuki have heart defects.
(Katelyn has the heart defects and has already had open heart surgeries)
Other common conditions:
Kidney defects, gastrointestinal problems, hypotonia(poor muscle strength), neonatal hypotonia, neonatal hyperbilirubinaemia, neonatal hyperglycemia, abnormal dentiton, recurrent otitis media(ear infections), premature breast development, small/short stature, hearing loss, fingernails grow upwards, vitiligo vulgaris(patches of depigmentation), preauricular fistula(tubelike passage within the body tissue), joint laxity, poor immune system
(Katelyn has the Kidney defects(right kidney lower than it should be), hypotonia, recurrent otitis media, hearing loss, fingernails grow upward, vitiligo vulgaris, preauricular fistula, low immune system and joint laxity. She also has some behavorial problems. She cannot stand changes in routine, asks questions over and over, very impatient, will kick her herself or bang arms off of walls or furniture when bored or frustrated, she has some tactile defensivness with things against her skin, upsets easily, loses focus easily and talks to herself 75% of the day).
Picture indicates what vitiligo vulgaris looks like.