Craniosynostosis and dental anomalies

Definition:

Craniosynostosis and dental anomalies (CRSDA) is an autosomal recessive form of craniosynostosis associated with delayed tooth eruption, maxillary hypoplasia, supernumerary teeth, and digit abnormalities. It was reported that affected children harbored mutations in IL11RA encoding interleukin 11 receptor, alpha. It has been suggested that IL11 signaling is essential for the normal development of craniofacial bones and teeth and that its function is to restrict suture fusion and tooth number.

References:

[1]. Pekka Nieminen, et al. Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. Am J Hum Genet. 2011 Jul 15;89(1):67-81. [Content Brief]

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