McKusick Kaufman syndrome

Common Name(s)

McKusick Kaufman syndrome

McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by {28:Schaefer et al., 2011}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "McKusick Kaufman syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "McKusick Kaufman syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Prenatal diagnosis of McKusick-Kaufman/Bardet-Biedl syndrome.
 

Author(s): Ayse Parlakgumus, Cem Yalcinkaya, Esra Kilicdag

Journal:

 

A 24-year-old primigravid women with no remarkable history and antenatal follow-up was referred to our clinic with the diagnosis of fetal megacystis. Ultrasound examination revealed an oval shaped hypoechoic cystic mass measuring 80×55×50 mm occupying the fetal pelvis in a female ...

Last Updated: 15 Jun 2012

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Genetic and physical mapping of the McKusick-Kaufman syndrome.
 

Author(s): D L Stone, R Agarwala, A A Schäffer, J L Weber, D Vaske, T Oda, S C Chandrasekharappa, C A Francomano, L G Biesecker

Journal: Hum. Mol. Genet.. 1998 Mar;7(3):475-81.

 

McKusick-Kaufman syndrome is a human developmental anomaly syndrome comprising mesoaxial or postaxial polydactyly, congenital heart disease and hydrometrocolpos. This syndrome is diagnosed most frequently in the Old Order Amish population and is inherited in an autosomal recessive ...

Last Updated: 16 Apr 1998

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Reviews from the PubMed Database

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The terms "McKusick Kaufman syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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