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Results 1 - 10 of 10 for Syndromic craniosynostosis
  1. 19p13.13 deletion syndrome 
    ... Halbach S, Thorland EC, Khorasani L, Reid RR. Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13. ... Wyns E, Sibille C. A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion. Am ...
    https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome - Genetics
  2. FGFR2 gene 
    ... Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. Int J Biol Sci. 2017 Nov 2;13( ... M, Bonaventure J. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  3. Craniosynostosis (Mayo Foundation for Medical Education and Research)  
    Craniofacial Abnormalities/Specifics ... Craniofacial Abnormalities ... Mayo Foundation for Medical Education and Research
    https://www.mayoclinic.org/.../symptoms-causes/syc-20354513?p=1 - External Health Links
  4. Muenke syndrome 
    ... genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst. 2012 Sep;28(9):1447- ...
    https://medlineplus.gov/genetics/condition/muenke-syndrome - Genetics
  5. Crouzon syndrome 
    ... Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. Int J Biol Sci. 2017 Nov 2;13( ...
    https://medlineplus.gov/genetics/condition/crouzon-syndrome - Genetics
  6. Saethre-Chotzen syndrome 
    ... Seto ML, Ratisoontorn C, Heike CL, Hing AV. Syndromic craniosynostosis: from history to hydrogen bonds. Orthod Craniofac Res. ...
    https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome - Genetics
  7. Apert syndrome 
    ... RD, Hayward RD, Jones BM. The elbow in syndromic craniosynostosis. J Craniofac Surg. 1998 May;9(3):201- ...
    https://medlineplus.gov/genetics/condition/apert-syndrome - Genetics
  8. Jackson-Weiss syndrome 
    ... NB, Solomon BD, Muenke M. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr ...
    https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome - Genetics
  9. Loeys-Dietz syndrome 
    ... problems including premature fusion of the skull bones (craniosynostosis), an abnormal side-to-side curvature of the ... Mutations in a TGF-beta ligand, TGFB3, cause syndromic aortic aneurysms and dissections. J Am Coll Cardiol. ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
  10. Xia-Gibbs syndrome 
    ... skin include premature fusion of certain skull bones (craniosynostosis), unusually loose (lax) joints, and loose skin.Neurodevelopmental ... novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am ...
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics