Medicine:Michels syndrome
From HandWiki
| Michels syndrome | |
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| Other names | Oculopalatoskeletal syndrome |
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| This condition is inherited in an autosomal recessive manner[1] | |
| Specialty | Medical genetics |
Michels syndrome is a syndrome characterised by intellectual disability, craniosynostosis, blepharophimosis, ptosis, epicanthus inversus,[2][3] highly arched eyebrows, and hypertelorism.[3][4] People with Michels syndrome 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.[3][4]
See also
- Malpuech facial clefting syndrome, another condition in the 3MC spectrum
References
- ↑ "OMIM Entry - # 257920 - 3MC SYNDROME 1; 3MC1" (in en-us). https://omim.org/entry/257920.
- ↑ "Craniosynostosis and lid anomalies: report of a girl with Michels syndrome". Am. J. Med. Genet. 37 (1): 28–30. September 1990. doi:10.1002/ajmg.1320370108. PMID 2240039.
- ↑ 3.0 3.1 3.2 "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. September 2005. doi:10.1002/ajmg.a.30878. PMID 16096999.
- ↑ 4.0 4.1 "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. February 2007. doi:10.1002/ajmg.a.31610. PMID 17236195.
External links
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