- Michels syndrome
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Michels syndrome is a syndrome characterised by mental deficiency, craniosynostosis, blepharophimosis, ptosis, epicanthus inversus,[1][2] highly arched eyebrows, and hypertelorism.[2][3] And vary in other symptoms such as asymmetry of the skull, eyelid, and anterior chamber anomalies, cleft lip and palate, umbilical anomalies, and growth and cognitive development.[2][3]
See also
References
- ^ Cunniff C, Jones KL (September 1990). "Craniosynostosis and lid anomalies: report of a girl with Michels syndrome". Am. J. Med. Genet. 37 (1): 28–30. doi:10.1002/ajmg.1320370108. PMID 2240039.
- ^ a b c Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A (September 2005). "Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?". Am. J. Med. Genet. A 137A (3): 332–5. doi:10.1002/ajmg.a.30878. PMID 16096999.
- ^ a b Al Kaissi A, Klaushofer K, Safi H, et al. (February 2007). "Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?". Am. J. Med. Genet. A 143 (4): 349–54. doi:10.1002/ajmg.a.31610. PMID 17236195.
Categories:- Syndromes
- Congenital disorders
- Autosomal recessive disorders
- Rare diseases
- Disease stubs
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