Carnevale Syndrome

Common Name(s)

Carnevale Syndrome

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by {6:Rooryck et al., 2011}). For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 ({257920}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Carnevale Syndrome" for support, advocacy or research.

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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 "Carnevale Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

The x-ray crystal structure of mannose-binding lectin-associated serine proteinase-3 reveals the structural basis for enzyme inactivity associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome.
 

Author(s): Tang Yongqing, Pascal G Wilmann, Shane B Reeve, Theresa H Coetzer, A Ian Smith, James C Whisstock, Robert N Pike, Lakshmi C Wijeyewickrema

Journal: J. Biol. Chem.. 2013 Aug;288(31):22399-407.

 

The mannose-binding lectin associated-protease-3 (MASP-3) is a member of the lectin pathway of the complement system, a key component of human innate and active immunity. Mutations in MASP-3 have recently been found to be associated with Carnevale, Mingarelli, Malpuech, and Michels ...

Last Updated: 5 Aug 2013

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The terms "Carnevale 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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