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Kabuki syndrome - Wikipedia
https://en.wikipedia.org/wiki/Kabuki_syndrome
WEBKabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. [1] [2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.
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Kabuki Syndrome: Symptoms, Causes & Outlook - Cleveland Clinic
https://my.clevelandclinic.org/health/diseases/24095-kabuki-syndrome
WEBKabuki syndrome is a rare genetic condition that can affect many different parts of your child’s body. 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 …
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Kabuki syndrome - About the Disease - Genetic and Rare …
https://rarediseases.info.nih.gov/diseases/6810/kabuki-syndrome/
WEBKabuki syndrome is a rare disorder that affects multiple parts of the body. It is present from birth. Specific symptoms and severity can vary. Features often include a characteristic facial appearance; skeletal abnormalities; short stature; heart defects; and intellectual disability.
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Kabuki Syndrome - Symptoms, Causes, Treatment | NORD
https://rarediseases.org/rare-diseases/kabuki-syndrome/
WEBJul 6, 2023 · Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities and short stature. A wide variety of additional symptoms affecting multiple different organ systems can potentially occur.
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Kabuki syndrome: MedlinePlus Genetics
https://medlineplus.gov/genetics/condition/kabuki-syndrome/
WEBKabuki syndrome is a disorder that can affect many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes ...
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Kabuki Syndrome | Boston Children's Hospital
https://www.childrenshospital.org/conditions/kabuki-syndrome
WEBKabuki syndrome is a rare congenital disorder, meaning that a child is born with the condition. Children with Kabuki syndrome usually have distinctive facial features, mild to moderate mental impairment and growth problems. Kabuki syndrome can also affect many other body systems, including the heart, intestines, kidneys, and skeleton.
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Kabuki Syndrome Symptoms, Causes, and Treatment - Verywell …
https://www.verywellhealth.com/kabuki-syndrome-4781706
WEBMar 23, 2024 · Kabuki syndrome is a genetic disorder that is often but not always inherited from parents. Its symptoms include a small head, distinctive facial features, and bone and dental structure changes. Some people experience intellectual disability and behavioral challenges, with the potential for heart or kidney damage.
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Kabuki Syndrome: Diagnosis and Treatment - WebMD
https://www.webmd.com/children/what-is-kabuki-syndrome
WEBKabuki syndrome (KS) is a rare condition that affects multiple parts of the body. The name comes from the facial features typical of those with the disorder. They often have high, arched...
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What is Kabuki Syndrome? Learn About Kabuki Syndrome | KSF
https://www.kabukisyndromefoundation.org/about-kabuki-syndrome/
WEBKabuki syndrome is a rare genetic disorder that affects an estimated 1 in 32,000 births across genders, races, and ethnicities. Kabuki syndrome is caused by mutations in two known genes (KMT2D and KDM6A), and possibly others yet to be identified.
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Kabuki Syndrome: What Is It, Causes, Signs, Symptoms, and …
https://www.osmosis.org/answers/kabuki-syndrome
WEBJul 24, 2023 · Kabuki syndrome is a rare genetic syndrome characterized by multiple manifestations affecting several organ systems. Genetic mutations mainly cause it, but in some cases of Kabuki syndrome, the cause remains unknown. Some signs and symptoms of Kabuki syndrome may appear at birth. However, some may only appear …
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