Michels syndrome
Other Names for this Disease
- Craniosynostosis with lid anomalies
- Oculopalatoskeletal syndrome
Overview
Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry, abnormality of the occipital bone (at the base of the skull), and radioulnar synostosis, cleft lip and palate, and mental deficiency.[1] Only 10 cases have been reported in the medical literature. While the underlying cause of this condition remains unknown, it is believed to be transmitted as an autosomal recessive trait.[1][2]
Based on phenotypic overlap and autosomal recessive inheritance, some researchers have suggested that Michels, Malpuech, Carnevale and Mingarelli syndromes represent a spectrum and should be referred to a 3MC syndrome (for Malpuech-Michels-Mingarelli-Carnevale).[3]
References
- Michels syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2506. Accessed August 4, 2010.
- Michels Syndrome. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/257920. Accessed August 4, 2010.
- Titomanlio L, Bennaceur S, Bremond-Gignac D, et al.. Am J Med Genet. 2005. http://www.ncbi.nlm.nih.gov/pubmed/16096999. Accessed August 4, 2010.
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General Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Michels syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Michels syndrome. Click on the link to go to OMIM and review these resources.