Posada's son, Jorge Luis, suffers from craniosynostosis, which he was diagnosed with 10 days after he was born.
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Craniosynostosis occurs when the fetal skull and facial bones fuse too soon " in utero ", disrupting normal bone growth.
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The signs and symptoms of Muenke syndrome vary among affected people, and some findings overlap with those seen in other craniosynostosis syndromes.
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When your baby has craniosynostosis, his or her brain can't grow in its natural shape and the head is misshapen.
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The head circumference and the growth curve of the head provide important clues into making a differentiation between craniosynostosis, primary microcephaly and hydrocephalus.
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Muenke syndrome is estimated to account for 25 %-30 % of all genetic causes of craniosynostosis according to the Journal of Anatomy.
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"' Michels syndrome "'is a syndrome characterised by intellectual disability, craniosynostosis, blepharophimosis, growth and cognitive development.
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If it is not successfully treated, craniosynostosis can cause deformities of the skull and the face and can cause the underdevelopment of the brain.
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It sometimes is mistaken for a far less common but much more serious problem called craniosynostosis, in which bones in the skull fuse prematurely.
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FGFR2IIIc is found in mesenchyme, which includes craniofacial bone and for this reason the mutations of this gene and isoform are associated with craniosynostosis.
