Noonan syndrome: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Noonan syndrome: clinical features. Macrocephaly, Dolichocephaly, Triangular face with a high forehead, Curly hair. Fully referenced neurology checklist.
Cranial features
- Macrocephaly
- Dolichocephaly
- Triangular face with a high forehead
- Curly hair
- Chiari malformation
- Craniosynostosis
Ophthalmic features
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Facial and dental features
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Cardiac features
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Cancer risk
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Skeletal features
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Other features
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References
- Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab 2011; 25:161-179.
- Roberts A, Allanson J, Jadico SK, et al. The cardiofaciocutaneous syndrome. J Med Genet 2006; 43:833-842.
- Ejarque I, Millán-Salvador JM, Oltra S, et al. Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway. Rev Neurol 2015; 60:408-412.
- Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N. Craniosynostosis in patients with RASopathies: accumulating clinical evidence for expanding the phenotype. Am J Med Genet A 2017; 173:2346-2352.
- Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet 2011; 157C:83-89.
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