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Kabuki syndrome: Quiz


Question 1: Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa–Kurok Syndrome, is a very rare pediatric congenital disorder of unknown cause with multiple congenital anomalies and ________.
Alzheimer's diseaseSchizophreniaMental retardationMental disorder

Question 2: There is no indication that the ________ of individuals with Kabuki syndrome is shortened.
Maximum life spanLife expectancyLongevityLife extension

Question 3: Other clinical features often include scoliosis, short fifth finger, persistence of fingerpads, and ________ abnormalities of the vertebrae, hands, and hip joints.
X-rayNuclear fusionRadiation therapyIonizing radiation

Question 4: Inheritance is thought to be autosomal dominant or ________; several chromosomal abnormalities have been found, but none of them appear to be specific to Kabuki Syndrome.
Lesch–Nyhan syndromeWiskott-Aldrich syndromeX-linked recessive inheritanceFragile X syndrome

Question 5: In terms of development, mild to moderate ________ (92%) is a common feature.
Mental retardationMental disorderAlzheimer's diseaseSchizophrenia

Question 6: It is named Kabuki Syndrome because of the facial resemblance of affected individuals with white ________ makeup, a Japanese traditional theatrical form.
Sugawara Denju Tenarai KagamiKabukiKyotoYoshitsune Senbon Zakura


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