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Cleft hand in Kabuki make-up syndrome: case report
Jung Kyu Huh1, Moon Sang Chung, Goo Hyun Baek
1Department of Orthopaedics, Hand and Upper Extremity Service, Seoul National University Bundang Hospital, Seongnam, Gyeonggi-do, Korea.
The Journal of Hand Surgery
|March 18, 2011
Summary
Kabuki make-up syndrome (KMS) is a rare genetic disorder. This study highlights a previously undocumented hand anomaly, cleft hand, in a patient with KMS, and explores its potential genetic origins.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Kabuki make-up syndrome (KMS) is a rare genetic disorder characterized by multiple congenital abnormalities, including craniofacial, skeletal, and dermatoglyphic anomalies, intellectual disability, and short stature.
- Common hand anomalies in KMS include persistent fingertip pads, brachydactyly, clinodactyly, and joint laxity.
Observation:
- This report details a patient diagnosed with Kabuki make-up syndrome (KMS).
- The patient presented with a cleft hand, a congenital anomaly not previously described in the literature for KMS.
Findings:
- The study identifies cleft hand as a novel manifestation of Kabuki make-up syndrome (KMS).
- The research discusses the potential genetic underpinnings contributing to this specific presentation in KMS.
Implications:
- This finding expands the known spectrum of clinical features associated with Kabuki make-up syndrome (KMS).
- Identifying novel anomalies like cleft hand aids in a more comprehensive understanding of KMS genetics and developmental pathways.
- Further research into the genetic cause of cleft hand in KMS could inform diagnostic approaches and potential therapeutic strategies.
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