Tooth and nail syndrome

Definition:

Witkop syndrome, also known as tooth and nail syndrome, is a form of ectodermal dysplasia manifested by hypodontia and nail dysplasia. Several teeth are congenitally missing and nails are spoon-shaped and easily broken. Mutations are identified in MSX1 gene.

References:

[1]. D Jumlongras, et al. A nonsense mutation in MSX1 causes Witkop syndrome. Am J Hum Genet. 2001 Jul;69(1):67-74. [Content Brief]

[2]. Mahtab Memarpour, et al. Witkop tooth and nail syndrome: a report of three cases in a family. Pediatr Dermatol. 2011 May-Jun;28(3):281-5. [Content Brief]

[3]. S Devadas, et al. Witkop tooth and nail syndrome: a case report. Int J Paediatr Dent. 2005 Sep;15(5):364-9. [Content Brief]

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