Michels syndrome

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]

Michels syndrome
Other namesOculopalatoskeletal syndrome
This condition is inherited in an autosomal recessive manner[1]
SpecialtyMedical genetics

See also

References

  1. "OMIM Entry - # 257920 - 3MC SYNDROME 1; 3MC1". omim.org. Retrieved 6 September 2017.
  2. Cunniff C, Jones KL (September 1990). "Craniosynostosis and lid anomalies: report of a girl with Michels syndrome". Am. J. Med. Genet. 37 (1): 28โ€“30. doi:10.1002/ajmg.1320370108. PMID 2240039.
  3. 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): 332โ€“5. doi:10.1002/ajmg.a.30878. PMID 16096999. S2CID 25690356.
  4. 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): 349โ€“54. doi:10.1002/ajmg.a.31610. PMID 17236195. S2CID 31561578.


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