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Our experience with McKusick-Kaufman syndrome patients
K Sonmez1, Z Turkyilmaz, R Karabulut
1Department of Pediatric Surgery, Faculty ofMedicine, Gazi University, Ankara, Turkey.
Bratislavske Lekarske Listy
|September 30, 2011
Summary
McKusick-Kaufman syndrome (MKKS) is a rare genetic disorder. Early diagnosis and re-evaluation for Bardet Biedl syndrome (BBS) signs are crucial for managing associated renal and retinal conditions.
Area of Science:
- Medical Genetics
- Pediatric Endocrinology
- Rare Diseases
Background:
- McKusick-Kaufman syndrome (MKKS) is an autosomal recessive disorder with fewer than 100 reported cases.
- MKKS presents with hydrometrocolpos and postaxial polydactyly, often diagnosed in neonates.
- Bardet Biedl syndrome (BBS) shares features like postaxial polydactyly but is typically diagnosed later in childhood.
Observation:
- This report details three children diagnosed with MKKS, presenting with large hydrometrocolpos and postaxial polydactyly.
- Associated renal disorders were observed in these patients to varying degrees.
- The distinct age of diagnosis between MKKS and BBS highlights potential diagnostic challenges.
Findings:
- MKKS shares features with BBS, including postaxial polydactyly.
- Renal complications are a significant comorbidity in MKKS patients.
- The overlap in symptoms necessitates careful differential diagnosis.
Implications:
- Re-evaluating all MKKS cases for signs of BBS is recommended.
- Screening for retinitis pigmentosa and other progressive BBS-related disorders in MKKS patients is advised.
- Early identification of overlapping conditions can lead to better patient outcomes and management strategies.
