Kabuki syndrome
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Kabuki syndrome is a rare congenital condition characterized by unusual facial features, skeletal abnormalities, and intellectual impairment due to genetic abnormalities.
Kabuki syndrome (also known as Niikawa-Kuroki syndrome) was first described in 1980 by Dr. N. Niikawa and Dr. Y. Kuroki of Japan.
Etiology of Kabuki syndrome is still unknown but thought to be genetic abnormalities of the X and Y chromosome or chromosome 4 in few individual, but is most cases, chromosomes are normal.
Signs and symptom of Kabuki syndrome can vary from individual to individual.There is a wide range of characteristics affecting many systems of the body, no one child will have all of the characteristics listed below.
Growth retardation, Intellectual impairment, reduced muscle tone, long palpebral fissures, Eversion of later portion of lower eyelid, Drooping eyelids, Arched eyebrows, Strabismus, Protuberant ears, Preauricular pit, Cleft palate, Tooth abnormalities, Open mouth, Tented upper lip, Myopathic appearance, Short fifth finger, Incurved fifth finger, Short fourth and fifth metacarpals, Short middle phalanges, Brachydactyly( short finger), Rib anomalies, Sagittal cleft of vertebral body, Hip dislocation, Scoliosis, Heart defects, Narrowing of the aorta, Bicuspid aortic valve, Mitral valve prolapse, Membranous ventricular septal defect, Pulmonary stenosis, Aortic stenosis, Mitral valve stenosis, Tetralogy of Fallot, Single ventricle with common atrium, Double outlet right ventricle, Transportation of great vessels, Joint hyperextensibility, Persistent fetal finger pad
How Kabuki syndrome is diagnosed?
The diagnosis of kabuki syndrome relies on patient’s history, physical examination, x-rays, ultrasound and genetic test. A person can be diagnosed with Kabuki syndrome if they possess characteristics consistent with the five different groups of cardinal symptoms: typical face, skin-surface abnormalities, skeletal abnormalities, mild to moderate mental retardation, and short stature.
Is there a cure of Kabuki syndrome?
There is no cure of Kabuki syndrome but there are some treatment available that can effectively reduce the symptoms and complication of this disease. For children with heart defects, surgical repair is often necessary. This may take place shortly after birth if the heart abnormality is life threatening. Those, who are facing some difficulties while swallowing a food, surgical operation in needed in which a tube is inserted in the abdomen so that a patient can swallow food without difficulties. Patient with hear loss can use hearing-aid device. Children with Kabuki syndrome should be educated and trained in behavioral and mechanical methods to adapt to any disabilities. Support groups and community organizations for people with disabilities often prove useful to the affected individuals and their families.
The prognosis of Kabuki syndrome depends on the severity of the symptoms and mode of the treatment given.
Reference:
- www.emedicinehealth.com
- emedicine.medscape.com
- www.medicinenet.com
- en.wikipedia.org
- www.nlm.nih.gov
- www.google.com/health
Filed Under: Pediatrics
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