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| printer friendly | KABUKI SYNDROME | ||||||||||||||||||||
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Currently Contact a Family is actively involved in facilitating the formation of a UK support group. If you would like to know more about this, please contact the Rare Disorders Team on Tel: 020 7608 8700 or e-mail: specific-cond@cafamily.org.uk . We look forward to hearing from you. Kabuki syndrome: Kabuki Make-Up syndrome Kabuki syndrome is a pattern of physical and developmental problems which was first noted in children in Japan. The doctors who first wrote about this condition felt that the facial features of the affected children looked like the characters in a type of Japanese theatre called Kabuki theatre, hence they named the condition Kabuki syndrome. The syndrome has now been identified worldwide. Children and adults with Kabuki syndrome have a distinctive facial appearance with long eye openings which may slant upwards. The eyebrows are usually arched. The ears may appear prominent and the corners of the mouth tend to turn downwards. There is a little indentation below the lower lip. Some children with Kabuki syndrome are loose jointed and almost all have rather prominent finger pads. Other physical features including heart, kidney and bowel problems have been found in some, but certainly not all, of the children. Most children with Kabuki syndrome grow slowly even though many have been of normal size at birth. Some children have a head size which is below the normal range. Some children are susceptible to infections when young, especially ear infections. In some girls early breast development may be noted. Children with Kabuki syndrome usually learn at a slower rate than normal but they do have the ability to continue learning and make progress. Help can be given to encourage a child's progress and special education can help them achieve their own potential. Inheritance patterns Prenatal diagnosis Psychological and behavioural characteristics Kabuki syndrome is associated with the presence of learning disability, typically in the mild to moderate range. That said, the degree of learning disability varies considerably, and some individuals may be of normal general intelligence. Oromotor co-ordination may be impaired and feeding difficulties may occur in children with or without cleft palates. Some speech articulation errors can resolve over time but other anomalies persist. Early speech and language delay is very common and some language-related difficulties usually persist. These are evident even in cases of apparently age-appropriate general cognitive functioning, and are not necessarily only a result of structural anomalies of the mouth and throat. Other areas of language understanding and expression may be affected. The syndrome has not been closely linked to a distinctive pattern or profile of behaviours. Many children may be very expressive and sociable, whereas others may display "autistic-like" difficulties in their social communication, interactions with their peers, repetitive behaviours, and sensory interests. There is relatively little information about the long term outcome for individuals with Kabuki syndrome. It seems that this may vary widely. That said, life expectancy may be normal if potential medical complications, such as heart or kidney defects, are treated in childhood. Medical text written October 1999 by Professor Dian Donnai. Last updated May 2004 by Professor Dian Donnai, Consultant Clinical Geneticist, St Mary's Hospital, Manchester, UK. Psychological and behavioural characteristics information last updated March 2004 by Dr O Udwin, Consultant Clinical Child Psychologist, West London Mental Health NHS Trust, London, UK and Dr A Kuczynski, Child Clinical Psychologist, South London & Maudsley NHS Trust, London, UK. The Kabuki syndrome Support Group is currently in abeyance. Families can use Contact a Family's Freephone Helpline for advice, information and, where possible, links to other families. Contact a Family's web-based linking service Making Contact.org can be accessed at http://www.makingcontact.org |
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Contact a Family may also be able to help with information and contacts for conditions not listed - please call the Contact a Family Helpline on 0808 808 3555 Freephone for parents and families (Mon-Fri, 10am-4pm & Mon, 5.30-7.30pm). |
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| This Web Site © Copyright, Contact a Family 2007. Although great care has been taken in the compilation and preparation of this work to ensure accuracy, Contact a Family cannot accept responsibility for any errors or omissions. Any medical information is provided for education/information purposes. It should be noted that most information written about specific disorders includes the most severe scenario. Many individual cases may not display all the features mentioned and the degree of severity of the features that are displayed may vary a great deal between individual cases. You should obtain further information from your medical practitioner. Any links to external websites have been carefully selected but are provided without any endorsement of the content of those sites. Please refer to our detailed Legal page for more information. Contact a Family, 209-211 City Road, London EC1V 1JN Tel: (020) 7608 8700. Registered Charity No. 284912. Company limited by guarantee, registered in England and Wales No. 1633333. HM Revenue & Customs charity tax reference No. XN54769. VAT Reg. No. GB 749 3846 82. |
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