What does Kabuki syndrome mean in medical terminology ?

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What does Kabuki syndrome mean in medical terminology ?

taklamakan

What does Kabuki syndrome mean in medical terminology ?

Kabuki syndrome is a rare syndrome characterized by multiple congenital anomalies and mental retardation.

ancienttimes

How is Kabuki syndrome diagnosed ?

Five cardinals diagnosed as a result of clinical observations on the appearance of symptoms

facial appearance peculiar to the syndrome
middle level mental retardation
skeletal anomalies
dermatoglyphic anomalies
postnatal growth retardation

cardigans

What is Kabuki Syndrome in medical terms ?

Kabuki Syndrome is a rare genetic syndrome manifested by characteristic physical features, developmental anomalies and learning disabilities.

danishlady

What are the symptoms of Kabuki Syndrome ?

Hypotonia
Long palpebral fissure
Finger pads
The eyelid (lower) lateral part is facing outwards
Scoliosis-kyphosis
Blue sclera
Shortness in the nasal septum
Big forward ears
Hearing loss
Heart anomalies
Mild to moderate mental retardations
Lip-palate cleft

culinary

What is the cause of Kabuki Syndrome ?

The KMT2D gene mutation is responsible for 75% of individuals with Kabuki Syndrome. Again, 9% of cases have KDM6A gene mutation. The functions of KMT2D and KDM6A are interestingly interconnected.

dreamers

What is the incidence of Kabuki Syndrome in Japan ?

Kabuki syndrome is observed in 32,000 children in Japan. It is seen equally in boys and girls.

enigmatic

Does Kabuki Syndrome effect lifespan of humans ?

Kabuki Syndrome does not affect life span in any way.

itsmybaby

How is Kabuki Syndrome treated ?

The treatment plan should be prepared to eliminate existing malformations. ENT, Audiology, Cardiology, Endocrine, Plastic Surgery consultations are required for the detection and treatment of existing malformations.

gnabry

What can be necessary during the treatment of Kabuki Syndrome ?

Physiotherapy
Occupational therapy
Speech and Language Therapy
Support training
Vision Therapy
Therapeutic approaches such as Art Therapy
can be necessary in the treatment of Kabuki Syndrome.

heyday

What does Kabuki Syndrome mean ?

Kabuki syndrome (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a multiple malformation and mental retardation condition. It is characterized by distinctive facial features, musculosceletal anomalies, dermatoglyphic abnormalities, growth retardation, congenital heart defects, renal/genitourinary anomalies, anorectal anomalies, biliary atresia, epilepsia, adenoid hypertrophy, recurrent otitis media, diaphragmatic hernia, joint laxity, dental anomalies, high-arched palate, ophthalmologic abnormalities and mental retardation.
Reference source : http://www.jarss.org/pdfs/2011_3-182-186.pdf

justcaptivated

What is the real cause of Kabuki Syndrome ?

The real cause of Kabuki Syndrome is unknown. Although many possible genetic abnormalities related to the syndrome have been reported, a consensus has not yet been reached on diagnostic criteria and genetic tests to confirm the diagnosis.

stockholmcity

What is the face appearance specific to Kabuki syndrome ?

Face appearance specific to Kabuki syndrome (long palpebral fissures, eversion of the lower eyelids, sparse curved cuffs, low nose root, low nape hairline, big and low ear buckets, swelling, ptosis, hypertrichosis)

stepwisesolution

What is Kabuki Syndrome in medical terms ?

Kabuki Syndrome is a very rare problem with characteristic physical features, developmental abnormalities and learning difficulties.
The name of the syndrome comes from the traditional Japanese theater form because the features that appear are very similar to the makeup of the actors.

blingmyfaves

What are the reasons for Kabuki syndrome ?

The reasons for Kabuki syndrome are not yet known. A genetic risk factor is suspected but no definitive diagnosis has been made yet. If it is a gene causing the disease, it is very likely that it has undergone a rare and occasional mutation.

captainamerica

What are the signs of Kabuki syndrome ?

People with this disease have an unusual face shape, defined by wide eyes, long and thick lashes and arched eyebrows.
Newborns are usually born with normal birth weight, but often do not grow as fast as expected. Delays in speech and language development are quite common. Many babies also have nutritional problems.
Kabuki syndrome is quite complicated and has many more unique symptoms.