Journey with Genetic Craniosynostosis

Journey with Genetic Craniosynostosis Journey with Genetic Craniosynostosis Journey with Genetic Craniosynostosis
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Journey with Genetic Craniosynostosis

Journey with Genetic Craniosynostosis Journey with Genetic Craniosynostosis Journey with Genetic Craniosynostosis
  • Home
  • About Us
  • Contact Us
  • In memory of Brentley
  • Types of mutations

Genetic mutations

Mutations in the following genes may be associated with craniosynostosis: 


-TCF-12

-ERF

-CDC45

-SMO

-SMAD6

Genetic Conditions that can cause Syndromic

Some genetic conditions that can cause or include syndromic craniosynostosis are:


-Antley-Bixler is a rare condition that affects the skull and bones in the face.

-Apert syndrome causes premature fusing of the bones in the skull (craniosynostosis), as well as in the fingers and toes.

-Carpenter syndrome causes changes in the formation of the skull, fingers, and toes. 

-Crouzon syndrome affects the bones, muscles, joints, and cartilage. It often leads to the premature fusing of several sutures in the skull.

-Frontonasal dysplasia is a rare disorder that leads to abnormal development of the head and face, including wide-set eyes, a flat nose, and a groove down the middle of the face.

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  • Types of mutations

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