Michels syndrome

Michels syndrome
Other names	Oculopalatoskeletal syndrome
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

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): 28–30. 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): 332–5. 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): 349–54. doi:10.1002/ajmg.a.31610. PMID   17236195. S2CID   31561578.