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Related Experiment Videos

Kabuki make-up syndrome.

M L Kulkarni1, Sudarshan K Shetty, V K Chandrasekar

  • 1Department of Pediatrics, Jagadguru Jayadeva Murugarajendra Medical College, Davangere, Karnataka, India. bhagyavathi_m@yahoo.com

Indian Journal of Pediatrics
|September 28, 2004
PubMed
Summary

Kabuki make-up syndrome, a rare genetic disorder, presents with intellectual disability, growth retardation, and distinctive facial features. This report details a case identified in an Indian child, highlighting the syndrome

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Area of Science:

  • Genetics and rare diseases
  • Pediatric medicine
  • Clinical dysmorphology

Background:

  • Kabuki make-up syndrome (KMS) is a rare genetic disorder.
  • KMS is characterized by intellectual disability, postnatal dwarfism, and distinctive facial features.
  • While prevalent in Japan, KMS cases are documented globally.

Observation:

  • A case study of an eight-year-old Indian girl with KMS.
  • The patient exhibited characteristic clinical manifestations of the syndrome.
  • This case contributes to the understanding of KMS prevalence in diverse geographical regions.

Findings:

  • Confirmation of KMS diagnosis in a pediatric patient from India.
  • Detailed description of the patient's specific physical and cognitive impairments.

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  • The findings align with the established diagnostic criteria for Kabuki make-up syndrome.

    • Implications:

    • Highlights the importance of recognizing KMS in non-Japanese populations.
    • Emphasizes the need for early diagnosis and management of KMS.
    • Contributes to the global epidemiological data of this rare genetic disorder.