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Kabuki syndrome

This is part of Rare diseases.

Diagnosis: Kabuki syndrome

Synonyms: Kabuki makeup syndrome, Niikawa-Kuroki syndrome

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Publication date: 2014-11-19
Version: 2.0

ICD-10

Q87.8

The disease

Kabuki syndrome is a congenital condition that is associated with characteristic facial features, developmental delay and various types of malformations. Common symptoms include mild cognitive disability, impaired growth, various types of skeletal malformations and prominent finger pads. The cause is genetic and the syndrome was first described by Japanese geneticists Yoshikazu Kuroki and Norio Niikawa in 1981. At first it was believed that the condition was found mostly in Japan, but it is now known that the syndrome is equally prevalent worldwide.

The condition is sometimes known as Kabuki makeup syndrome, referring to the characteristic appearance of long eyelids and arched eyebrows associated with the disorder, which resembles the makeup of actors in the traditional Japanese Kabuki theatre.

Occurrence

The estimated incidence of Kabuki syndrome is 3 per 100,000 live births, meaning that three or four children are born with the syndrome every year in Sweden. The condition is equally common in boys and girls.

Cause

The cause of the disease is genetic and several groups of researchers in recent years have been able to prove that between 50 and 75 per cent of individuals with characteristic symptoms of Kabuki syndrome have mutations in the KMT2D gene (previously known as MLL2) on chromosome 12 (12q12-q14).

A few people have a mutation in the KDM6A gene on the X chromosome (Xp11.3). Mutations in genes on the X chromosome usually cause symptoms in males, but in this case both males and females can be affected.

The KMT2D gene is a template for the production of (codes for) a protein affecting the structure of DNA and the ability of genes to switch themselves on and off. For this reason many genes are affected by this mutation, which explains why so many organs are involved in the syndrome. The KDM6A gene has a similar function and works together with KMT2D. Both genes affect the structure of histones. Histones can be compared with the bobbins which the threads of DNA wind around. If the histones do not function correctly, neither do the genes. The effect of histones on genetic function belongs to a subject called epigenetics, which examines the system by which genes become active or inactive.

It is thought that as yet unidentified genetic mutations also cause Kabuki syndrome, as in approximately 30 per cent of cases mutations in the two known genes cannot be identified.

As well as mutations in specific genes, different types of chromosomal abnormalities can cause similar symptoms. The role of these abnormalities is unclear as yet.

Heredity

Kabuki syndrome is usually caused by a new mutation. This means that the genetic mutation occurs in an individual for the first time and is not inherited from either parent. Consequently, parents with a child with a new mutation generally have only a slight risk of having another child with the disorder. However, the new genetic mutation will be hereditary and an adult with this mutation risks passing on the mutated gene to his/her children.

When Kabuki syndrome is inherited, the pattern of inheritance is autosomal dominant. This means that one of the parents has the disease, and so has one normal gene and one mutated gene. Sons and daughters of this parent have a 50 per cent risk of inheriting the disease. Children who do not inherit the mutated gene do not have the disease and do not pass it on.

Figure: Autosomal dominant inheritance

Symptoms

Kabuki syndrome affects several organs and organ systems in the body. Symptoms vary from individual to individual, and there is also some variation between individuals with different ethnic background. For example, neurological symptoms such as low muscle tone, epilepsy and tooth abnormalities seem to be more frequent in Europe, while skeletal anomalies are more common in Japan.

Most children with the syndrome do not have all the characteristics described in this text. This description is intended to make parents and health care professionals aware of potential congenital malformations and abnormalities that may present.

Growth

Newborns with Kabuki syndrome are usually within the normal height and weight range. Sucking and swallowing difficulties are common, and reflux (when stomach contents flow back up into the oesophagus) may also be a problem. Failure to thrive is usually evident during the first year of life, and grown-ups with the syndrome have a final height that is shorter than average. Growth hormone deficiency has been identified in only a few individuals with the syndrome. This indicates that other factors are the cause of impaired growth. Some children who fail to thrive in infancy have an increased risk of developing obesity in their teens.

The onset of puberty may come early, especially in girls. Swollen mammary (breast) glands may present already in infancy, in boys as well as girls. This condition will usually improve spontaneously.

The heart

Between 40 and 50 per cent of these children have congenital heart defects. The most common types of heart anomalies include a narrowing of the aorta (coarctation of the aorta), an abnormal opening in the wall (the septum) between the ventricles of the heart (VSD), or between the right and left atria (ASD). Cases of hypoplastic left heart syndrome (underdevelopment of the left side of the heart) have also been reported. Narrowing of the aorta is more common in boys, while other types of heart defects are equally prevalent in girls and boys.

The kidneys and genitals

Kidney and urogenital abnormalities are common. Approximately one quarter of all children with Kabuki syndrome have kidney anomalies, including renal underdevelopment (renal hypoplasia or dysplasia), obstruction of the flow of urine from the kidneys to the bladder (hydronephrosis), or fusion of the two kidneys (horseshoe kidney). Ureter abnormalities include enlargement, duplication or impaired flow. In approximately one quarter of all boys with the syndrome the testicles fail to descend into the scrotum (testis retention). They may also have a small penis or an abnormally placed urinary opening (hypospadias).

Development

Low muscle tone (hypotonus) and hyper-mobile joints are common problems, often causing delays in the child’s motor development. The average age at which children learn to walk is 20 months. Motor problems gradually improve as the child gets older. Poor muscle tone sometimes also causes drooping eyelids (ptosis), and problems with speech (articulation). Language acquisition is delayed in most of these children.

Most (85 to 90 per cent) have a mild to moderate cognitive impairment, while some people with the condition have learning difficulties. A few have a severe intellectual disability.

Approximately one third of children with the syndrome have a smaller than normal head circumference. However, this is not an abnormality confined to children with Kabuki syndrome.

A few people with Kabuki syndrome have a limited capacity for social interaction and for verbal or non-verbal communication (autism or autism spectrum disorder).

Epilepsy is quite common and can present at any age. Seizures take different forms, the most common being focal seizures whose origins are in the frontal part of the brain. Sometimes seizures cease as the child grows older.

Eyes

Almost half the people with the syndrome have eye symptoms, but only rarely is vision severely affected. The most common symptoms include drooping eyelids (ptosis), strabismus (squinting), and bluish sclera (the whites of the eyes). Refractory errors (for example near and far-sightedness), delayed vision development and cataracts may also occur. Congenital malformations such as an underdeveloped optic nerve (optic nerve hypoplasia), corneal abnormalities and coloboma (a hole or defect in the eye owing to failure of one of the structures in the eye to fuse) affecting the iris and retina, may also affect vison.

The shape of the eye, long eyelids and long eyelashes, are all characteristic of the syndrome. Another distinctive aspect of the facial features is that the outer part of the lower eyelid may be slightly turned out. Some of the children sleep with their eyes half open, which can increase the risk of damage to the cornea.

Ears

Most children with the syndrome have large, cupped ears. Recurrent ear infections are very common in infancy. One explanation may be structural abnormalities affecting the Eustachian tube or cleft palate. The high frequency of ear infections may be the result of an impaired immune system. At least half of all individuals with the syndrome also have impaired hearing caused by ear canal or middle ear defects (conductive hearing loss), or inner ear defects (neurogenic hearing loss). In many cases the child has a combination of both.

Skeleton and skin

Joint hypermobility is very common, and the hips and kneecaps are easily dislocated (hip luxation and patella luxation). It is not clear whether the over-flexible joints result from a connective tissue disorder or if the cause is neurological. Some children have skeletal anomalies, such as vertebral or rib defects or abnormal curvature of the spine (scoliosis).

Most people with Kabuki syndrome have prominent finger pads, known as fetal finger pads. This symptom rarely occurs in other disorders or syndromes. Many also have short fingers, the little finger in particular may be shortened and is often curved. Fingerprints may also have an unusual appearance.

The mouth and teeth

Oral motor skills may not be well developed, which may result in unclear speech. Reduced muscular tension can also cause drooling.

Many of these children have a narrow, thin upper lip, and some have pits and protruding blisters on their lower lip. Approximately one third have a small upper jaw. A high palate is common and 30 per cent of individuals have some form of cleft, usually a cleft palate, although a cleft lip or jaw may also occur.

Most of these children have teeth that are abnormally shaped and fewer than normal, so that they are widely spaced. It is usually the front teeth, both in the upper and lower jaw, that are missing. Sometimes the front teeth in the upper jaw are tapered (in the shape of a screwdriver). Teeth may appear later than average in children with Kabuki syndrome.

Sensitivity to infection

More than half of all people with the syndrome have an elevated risk of infection. The most common types are ear infection, pneumonia and upper respiratory tract infection. In many cases the recurring ear infections are a result of palatal, craniofacial or Eustachian tube anomalies, but they may also be explained by severe immunodeficiency associated with low immunoglobulin levels. There may also be low levels of certain immunoglobulins, notably IgA and IgG.

Autoimmune diseases

Individuals with Kabuki syndrome have a higher incidence of autoimmune diseases (when the immune system produces antibodies against the body's own tissues). Examples include idiopathic thrombocytopenic purpura (ITP) causing bleeding under the skin and a general increased risk of bleeding owing to low platelet (thrombocyte) count, haemolytic anaemia (anaemia resulting from abnormal breakdown of red blood cells), and inflammation of the thyroid gland (thyroiditis) which can lead to low levels of thyroid hormone (hypothyreosis).

Other points

Respiratory tract symptoms are relatively rare, although sleep apnoea (episodes of obstructed breathing during sleep) may occur.

A few individuals with the syndrome have diaphragmatic hernia (where there is a defect or hole in the diaphragm), rectal anomalies, other types of hernias, or bile duct abnormalities.

Prognosis

As the diagnosis was identified fairly recently there are still no major studies that assess the long-term course of the condition. However, as Kabuki syndrome is rarely associated with any serious medical complications, life expectancy is likely to be normal in most cases. Nor does it seem likely that fertility is affected, as there are both men and women with the syndrome who have become parents.

Diagnosis

The diagnosis is established on the basis of signs, symptoms and various test results, and can be confirmed by DNA analysis. The syndrome may be suspected if there is a characteristic appearance,
skeletal anomalies, finger pad abnormalities, mild to moderate intellectual disability and impaired growth.

The following diagnostic criteria must be fulfilled: characteristic facial features including long eye lids, arched eyebrows thinning towards the temples, a depressed nasal tip and prominent ears, in combination with delayed motor and cognitive development.

Establishing a mutation in either gene KMT2D or KDM6A confirms the diagnosis, but a negative result does not rule out Kabuki syndrome.

It may be difficult to establish the diagnosis in infants as the characteristic appearance develops over time and may not be obvious at first. Most children are therefore not diagnosed until after the age of two. Adults may also be difficult to diagnose, especially individuals with mild symptoms.

Researchers have found differences in symptoms between people with an established mutation in the KMT2D gene, and those people where a mutation has not been identified. People with the mutation have more defined distinctive features. It is also more common that they have kidney and digestive problems, cleft palate and joint luxation and that girls develop breasts prematurely. Everyone with a mutation in the KMT2D gene has symptoms, but the degree of severity varies.

Knowledge about mutations in the KDM6A gene is currently limited, but they are frequently associated with impaired growth, while other characteristic facial features are less pronounced.

Other similar diagnoses

A chromosome analysis should be carried out before a diagnosis is made in order to eliminate any chromosomal anomalies. Several different types of chromosome anomalies, for example on the X chromosome, and chromosome 8, give rise to very similar symptoms and test results to Kabuki syndrome. Children with 22q11 deletion syndrome or Noonan syndrome may also have similar symptoms. Children with coloboma may have clinical manifestations similar to those with CHARGE syndrome. The combination of cleft palate and lips with small depressions or pits, is also characteristic of van de Woude syndrome. Noonan syndrome, 22q11 deletion syndrome and CHARGE syndrome are all described separately in the rare disease database of the Swedish National Board of Health and Welfare.

At the time of diagnosis it is important that the family is offered genetic counselling. Carrier and prenatal diagnosis, as well as pre-implantation genetic diagnosis (PGD) in association with IVF (in vitro fertilization), are available to families where the mutation has been identified.

Treatment/interventions

There is no cure for the syndrome, but symptoms can be relieved in various ways. Much can be done to support the individual and to compensate for functional limitations. A child with Kabuki syndrome requires contact with many different specialists as several organ systems can be affected. It is important that support measures are coordinated and that the family is offered contact with a habilitation team from an early stage.

Growth

Height, weight and head circumference should be monitored on a regular basis. In exceptional cases, tests are carried out to establish whether there is a growth hormone deficiency. Many children need to be tube fed through the nose, for longer or shorter periods of time. If there are severe feeding problems a PEG (percutaneous endoscopic gastrostomy) may be required. PEG is a surgical procedure that creates a direct connection between the abdominal wall and the stomach.

The heart

All children who receive a diagnosis of Kabuki syndrome should undergo an ultrasound examination of the heart. If a heart defect is found, the child should be evaluated regularly, either by a cardiologist or the physician who regularly sees the child. Heart defects are usually, but not always, corrected through surgical intervention.

The kidneys and genitals

All children with the syndrome should also undergo an examination of the kidneys as structural anomalies increase the risk of urinary tract infections. Renal anomalies sometimes require surgical intervention. Boys whose testicles have not moved down into the scrotum require hormone treatment or corrective surgery.

Development

As most of these children have a cognitive impairment affecting several areas, they should be assessed regularly by a paediatric neurologist. The first assessment of the child's developmental level should be carried out in the preschool period and follow up assessments are often needed during the school years.

Epilepsy is treated medically.

Eyes

The eyes and vision should be checked regularly. There are examinations and tests available for tracking changes to the eye and corresponding vision problems. Squints are treated by covering the normal eye with a patch in order to train the affected eye. Cataracts are repaired surgically.

Ears

Children with recurrent ear infections should be seen by an ENT (Ear, Nose and Throat) specialist. Plastic ear tubes, grommets, are often needed. These are inserted surgically into the ear drum in order to drain fluid. Even children without recurring ear infections should have their hearing checked regularly.


Sensitivity to infection

Children with recurring respiratory tract infections and ear infections should be in contact with a paediatrician and/or an ENT specialist. An immunological evaluation should be carried out if problems are severe. If the child is diagnosed with an immunodeficiency disorder, immunoglobulin therapy may be a viable treatment option.

The mouth and teeth

As even minor clefting can cause feeding problems, a thorough examination of the palate and palatal function should be carried out at an early stage. For those children with clefting, early contact with a plastic surgeon is necessary. Clefts may be successfully treated, but require that surgical intervention is carried out in stages through childhood.

In order to ensure that children with sucking and eating difficulties are well nourished, the parents may need help from a nutrition team, including professionals such as a dietician and a speech therapist.

Children with impaired oral motor function and inarticulate speech should be evaluated and treated by a speech therapist.

As children with Kabuki syndrome may require a great deal of dental treatment, it is important that a specialist in paediatric dentistry carefully introduces the child to dental care. The family should be informed about short and long-term treatment options for replacing missing teeth. A dental hygienist or prophylactic dental nurse should carry out regular check-ups and initiate preventive dental care.

At around the age of eight or nine, a dental X-ray can be used to confirm the number of teeth. If teeth are missing, the planning of dental care should be handled by a team of specialists in the fields of pedodonthics (paediatric dentistry), orthodontics (specialising in tooth and bite alignment), and prosthetics (tooth replacements).

Other points

Evaluation and follow-up of scoliosis, hip joint luxation and kneecap luxation should be carried out by an orthopaedist. Hip joint luxation sometimes requires surgery, even if the child was treated with splints in the neonatal period.

Hypothyroidism is treated with thyroid hormone supplements in the form of tablets.

Habilitation

Habilitation, including hearing and vision habilitation, is essential for stimulating the child's development and compensating for functional limitations. A habilitation team includes professionals with special expertise in how disability affects everyday life, health and development. Help is available within the medical, educational, psychological, social and technical fields. Help includes assessment, treatment, assistance with aids, information on the specific disability, and counselling. Information is also available about support offered by public services as well as advice on adapting accommodation and other environments to the child’s needs. Parents, siblings and others close to the child may also receive support.

All habilitation planning is based on the needs of the child and the family. It may vary over time and is always planned in collaboration with individuals close to the child. Most children need to be educated in a special school which can provide the appropriate expertise.

In order for the child to be able to interact actively in different surroundings it is important to make an early start with speech, language and communication training. Many also need to see a speech therapist for help with delayed language acquisition and impaired oral motor function. Alternative, complementary, communication methods which are not based on speech (Augmentative Alternative Communication - AAC) may be appropriate.

Local Swedish public agencies can offer different forms of support to facilitate the family's everyday life. Respite care can, for example, take the form of a contact family or short-term accommodation outside the home.

Adults with Kabuki syndrome may require continued individual habilitation and support in their daily lives. They may for example need housing offering special services for the disabled, and daily activities.

Practical advice

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National and regional resources in Sweden

The following hospitals have departments of clinical genetics: Skåne University Hospital/Lund, Sahlgrenska University Hospital in Gothenburg, Linköping University Hospital, Karolinska University Hospital in Stockholm, Uppsala University Hospital and Umeå University Hospital.

A centre of excellence for orofacial problems is:

MHC, Institute of Odontology Gothenburg, Medicinaregatan 12A, SE-413 90 Gothenburg, Sweden. Tel: +46 10 441 79 80. email: mun-h-center@vgregion.se, www.mun-h-center.se.

The National Oral Disability Centre, Institute for Odontology, Box 1030, SE-551 11 Jönköping, Sweden. Tel: +46 36 32 46 66, fax: +46 36 32 46 12, email: kompetenscenter@lj.se.

Eastmaninstitutet, Public Dental Service Stockholm, Vällingbyplan 17, SE-162 65 Vällingby, Sweden. Tel: +46 8 123 165 38, email: ped.eastmaninstitutet@ftv.sll.se, www.folktandvardenstockholm.se/eastman-ped.

Resource personnel

Senior Physician Britt-Marie Anderlid, Astrid Lindgren Children’s Hospital and Department of Clinical Genetics, Karolinska University Hospital, Solna, SE-171 76 Stockholm, Sweden. Tel: +46 8 517 700 00.

Associate Professor Ann Nordgren, Department of Clinical Genetics, Karolinska University Hospital, Solna, SE-171 76 Stockholm, Sweden. Tel: +46 8 517 700 00.

Senior Dentist Birgitta Bergendal, The National Oral Disability Centre, Institute of Odontology, Box 1030, SE-551 11 Jönköping, Sweden. Tel: +46 36 32 46 68, email: birgitta.bergendal@lj.se.

Senior Physician Sólveig Óskarsdóttir, The Queen Silvia Children's Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00, fax: +46 31 707 06 94, email: solveig.oskarsdottir@vgregion.se.

Courses, exchanges of experience, recreation

Ågrenska is a national competence centre for rare diseases and its families' programme arranges stays for children and young people with disabilities and their families. Ågrenska is open to families from the whole of Sweden and focuses particularly on the needs of children and young people with rare diseases. In addition, a number of programmes every year is provided for adults with rare diseases. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

Organizations for the disabled/patient associations etc.

FUB, The Swedish National Association for Children, Young People and Adults with Intellectual Disabilities, Gävlegatan 18 C, Box 6436, SE-113 82 Stockholm, Sweden. Tel: +46 8 508 866 00, fax: +46 8 508 866 66, email: fub@fub.se, www.fub.se.

HRF, The Swedish Association of the Hard of Hearing, Gävlegatan 16, Box 6605, SE-113 84 Stockholm, Sweden. Tel: +46 8 457 55 00, text telephone: +46 8 457 55 01, fax: +46 8 457 55 03, email: hrf@hrf.se, www.hrf.se.

Thre is a Canadian Kabuki Syndrome Network, which is an association for families who have children with Kabuki syndrome. Their website, www.kabukisyndrome.com, contains information on research as well as general questions regarding research, health and habilitation.

In Australia there is an association called Supporting Aussie Kids with Kabuki Syndrome Inc (SAKKS), www.sakks.org.

In France there is a patient organization called the Association Syndrome Kabuki, http://asso.orpha.net/ASK/cgi-bin.

Courses, exchanges of experience for personnel

During the weeks of the Ågrenska Family Program, training days are organized for personnel working with the children who are participating. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

Reseach and Development

Research into the genetic background of Kabuki syndrome is ongoing, both in Sweden and internationally.

Information material

Short summaries of all the database texts are available as leaflets, in Swedish only. They can be printed out or ordered by selecting the Swedish version, and then clicking on the leaflet icon which will appear under "Mer hos oss" in the column on the right-hand side.

Newsletter from Ågrenska on Kabuki syndrome, no. 383 (2011). These newsletters are edited summaries of lectures delivered during family and adult stays at Ågrenska. They may be ordered from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se. They are also available at www.agrenska.se.

Kabuki Syndrome Network in Canada, www.kabukisyndrome.com, http://kabukisyndrome.com/ and SAKKS in Australia www.sakks.org have information on their websites.

Literature

Adam MP, Hudgins L. Kabuki syndrome: a review. Clin Genet 2005; 67: 209-219.

Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR et al. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet 2005; 132: 265-272.

Ben-Omran T, Teebi AS. Structural central nervous system (CNS) anomalies in Kabuki syndrome. Am J Med Genet A 2005; 137: 100-103.

Defloor T, van Borsel J, Schrander-Stumpel CT, Curfs LM. Expressive language in children with Kabuki syndrome. Am J Med Genet 2005; 132: 256-259.

Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola BJ. Congenital heart defects in Kabuki syndrome. Am J Med Genet 2001; 100: 269-274.

Ho HH, Eaves LC. Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features. Dev Med Child Neurol 1997; 39: 487-490.

Hoffman JD, Ciprero KL, Sullivan KE, Kaplan PB, McDonald-McGinn D, Zackai EH et al. Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet 2005; 135A: 278-281.

Kluijt I, van Dorp DB, Kwee ML, Toutain A, Keppler-Noreuil K, Warburg M et al. Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features. Ophthalmic Genet 2000; 21: 51-61.

Kung GC, Chang PM, Sklansky MS, Randolph LM. Hypoplastic left heart syndrome in patients with Kabuki syndrome. Pediatr Cardiol 2010; 31: 138-141.

Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC et al. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet 2012; 13: 119-24.

Makrythanasis P, van Bon B, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P et al. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clin Genet 2013; 84: 539-45.

Matsumoto N, Niikawa N. Kabuki make-up syndrome: a review. Am J Med Genet C Semin Med Genet 2003; 117: 57-65.

Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T et al. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A. 2013; 161: 2234-43.

Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K et al. KDM6A point mutations cause Kabuki syndrome. Hum Mutat. 2013; 34: 108-10.

Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010; 42: 790-793.

Peterson-Falzone SJ, Golabi M, Lalwani AK. Otolaryngologic manifestations of Kabuki syndrome. Int J Pediatr Otorhinolaryngol 1997; 38: 227-236.

Petzold D, Kratzsch E, Opitz Ch, Tinschert S. The Kabuki syndrome: four patients with oral abnormalities. Eur J Orthod 2003; 25: 13-19.

Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ. Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet 2005; 132: 234-243.

Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L. Developmental outcome in Kabuki syndrome. Am J Med Genet 2005; 132: 263-264.

Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M et al. Neonatal phenotype in Kabuki syndrome. Am J Med Genet 2005; 132: 244-247.

Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. Kabuki syndrome: a review study of three hundred patients. Clin Dysmorphol 2002; 11: 95-102.

White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D et al. Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. Am J Med Genet 2004; 127: 118-127.

Database references

OMIM (Online Mendelian Inheritance in Man) 

www.ncbi.nlm.nih.gov/omim 
Search: Kabuki syndrome

GeneReviews (University of Washington)
www.ncbi.nlm.nih.gov/books/NBK1116 
Search: Kabuki syndrome

Orphanet (European database)
www.orpha.net 
Search: Kabuki syndrome

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the draft of this information material is Senior Physician Britt-Marie Anderlid, The Astrid Lindgren Children's Hospital, Sweden.

The relevant organizations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Publication date: 2014-11-19
Version: 2.0
Publication date of Swedish version: 2014-08-20

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 422, SE-405 30 Gothenburg, Sweden. Tel: +46 31 786 55 90, email: ovanligadiagnoser@gu.se.

 

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This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.