These patients present morphological abnormalities such as cleft palate, prominent eyeballs, persistence of fingerpads, and vertebral abnormalities. Most also have learning difficulty. [go.gale.com]

In our series, overweight or obesity was present only in adult patients and three adolescents, instead, presented generalized poor growth. Patients with KS can present with hypoglycemia, which can be transient or persistent [63,64,65]. [link.springer.com]

Patient 2 presented with pectus carinatum, and Patient 3 presented with bilateral knee joint stiffness. [bmcmedgenet.biomedcentral.com]

Although the disease is present from birth (congenital), your baby may or may not show any signs of the condition as a newborn. It may take several years for symptoms to develop. [my.clevelandclinic.org]

Table 2 Splice-Site Variants Case Presentation An 11-year-old Colombian girl was delivered at 38 weeks of pregnancy without complication. [dovepress.com]

• Short Stature in Children

  Short stature. Some children with Kabuki syndrome may develop behavioral issues. The most common psychiatric/behavioral issues are found in a subset of children with the condition. [my.clevelandclinic.org]

• Feeding Problems in Infancy

  He also had feeding problems in infancy. He showed difficulties in sitting since birth and loss of head control. [karger.com]

• Normal Hearing

  Audiometric examination showed mild-to-moderate sensorineural hearing loss in the right ear (PTA 44dB); and normal hearing in the left (PTA 10dB). Estimated radiographic bone age was 6 years. [dovepress.com]

• Sparse Hair

  Highly arched and broad eyebrows with sparse hair on the ends. A short notch between your child’s nose and lips with a flat nose. Large ears, ears that stick out or ears that are cupped. [my.clevelandclinic.org]

• Anxiety Disorder

  These include ADHD/hyperactivity, anxiety disorder, self-harming behaviors, sleep disturbances and autism. Signs of these issues may include: Obsessive-compulsive traits. A tendency to fixate on certain objects or activities. [my.clevelandclinic.org]

Management and Treatment How is Kabuki syndrome treated? There’s no cure for Kabuki syndrome. Treatment for the condition focuses on alleviating your child’s specific symptoms. It can also help reduce the risk of complications. [my.clevelandclinic.org]

What are the treatment options for Kabuki syndrome? Treatment for Kabuki syndrome depends on the specific problems your child has. It can involve medication or surgery. [childrenshospital.org]

Standard Therapies Treatment There is no specific treatment for Kabuki syndrome. Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

New treatment perspectives of mental retardation could be a basis of future therapeutic strategy Référence 922 Année 2015 Type Thèse Lien document Auteur Alami marktani A Discipline Pédiatrie Encadrant Chaouki S [chu-fes.ma]

Treatment and prognosis Variable, depending on the degree of neuromuscular dysfunction and organ dysplasia. History and etymology "Kabuki" refers to a type of Japanese drama in which the players appear in stylized makeup. [radiopaedia.org]

The prognosis depends on it. Management is multidisciplinary and symptomatic only. [chu-fes.ma]

Treatment and prognosis Variable, depending on the degree of neuromuscular dysfunction and organ dysplasia. History and etymology "Kabuki" refers to a type of Japanese drama in which the players appear in stylized makeup. [radiopaedia.org]

Outlook / Prognosis Is Kabuki syndrome life-threatening? The outlook for Kabuki syndrome depends on the severity of your child’s condition. [my.clevelandclinic.org]

Parents of an affected child should talk to their physician and medical team about their child’s specific case, associated features and overall prognosis. [rarediseases.org]

Also, lack of genotype–phenotype correlation studies makes estimation of prognosis challenging. [nature.com]

The central genes etiologically associated with this condition are KMT2D and KDM6A, which are involved in epigenetic regulation.15 The patient in this case report had developmental delay and intellectual disability and exhibited a probably pathogenic [dovepress.com]

Prevention How can I prevent Kabuki syndrome? You can’t prevent Kabuki syndrome because it’s a genetic condition. The genetic mutation that causes this condition most often happens randomly. [my.clevelandclinic.org]

CONCLUSION: The high prevalence of immunopathological manifestations in KS demonstrates the importance of systematic screening and efficient preventive management of these treatable and sometimes life-threatening conditions. [ibrain.univ-tours.fr]

Kabuki syndrome: clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet A. 2005;132A(3):234–243. doi:10.1002/ajmg.a.30331 30. Sanlaville D, Amiel J, Genevieve D, et al. [dovepress.com]

Kabuki syndrome: clinical data in 20 patients, literature review, and further guidelines for preventive management. Am. J. Med. Genet. A. 132A, 234–243 (2005). Article Google Scholar Miyake, N. et al. [nature.com]

Horm Res Paediatr 86:319–324 CAS PubMed Google Scholar Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ (2005) Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. [link.springer.com]