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Kabuki make-up syndrome and hearing impairment
1H. Allen Chapman Research Institute of Medical Genetics, Children's Medical Center, Tulsa, OK 74135.
Clinical Dysmorphology
|January 1, 1993
Summary
Kabuki make-up syndrome, a rare genetic disorder, presents with distinct facial features and developmental delays. This case highlights potential autosomal dominant inheritance and previously undocumented severe ossicular malformations causing hearing loss.
Area of Science:
- Genetics
- Pediatrics
- Otolaryngology
Background:
- Kabuki make-up syndrome (KMS) is a rare genetic disorder characterized by intellectual disability, growth retardation, and distinctive facial dysmorphia.
- First described in 1981, KMS has been observed in various ethnic groups globally.
- Facial features include long palpebral fissures with lower eyelid eversion, arched and sparse eyebrows, and prominent ears.
Observation:
- A 13-year-old male patient presented with classic KMS features.
- The patient exhibited severe ossicular malformations, a previously unreported finding in KMS.
- Possible autosomal dominant inheritance was suggested by maternal linkage.
Findings:
- The patient's severe ossicular malformations led to significant hearing impairment.
- This case expands the known phenotypic spectrum of Kabuki make-up syndrome.
- The findings suggest a potential genetic link to auditory system development.
Implications:
- Early identification and audiological assessment are crucial for patients with KMS.
- Further research into the genetic basis of KMS may reveal new therapeutic targets.
- Understanding the full spectrum of KMS can improve patient management and genetic counseling.