Autosomal dominant.įloating-Harbor Syndrome: SRCAP.

Rubinstein-Taybi Syndrome: CREBBP and EP300. HDAC8-related CdLS is inherited in an X-linked manner, some HDAC8 heterozygous female carriers can be affected due to random X-inactivation (Deardorff et al. SMC1A-related CdLSis inherited in an X-linked dominant manner (Deardorff et al. NIPBL, SMC3, and RAD21-related CdLS are inherited in autosomal dominant manner. Autosomal dominantĬornelia de Lange Syndrome (CdLS): NIPBL, SMC3, SMC1A, RAD21 and HDAC8. Autosomal recessive.Īcrofacial dysostosis, Nager type: SF3B4. POLR1D related Treacher Collins Syndrome is mainly inherited in an autosomal dominant manner, except for two reported cases showed autosomal recessive inheritance. TCOF1-related Treacher Collins Syndrome is inherited in an autosomal dominant manner, while POLR1C-related Treacher Collins Syndrome is inherited in autosomal recessive manner. Treacher Collins Syndrome: TCOF1, POLR1C, POLR1D. There is at least one reported autosomal recessive FGFR3-related CATSHL family and two reported FGFR1-related Hartsfield syndrome cases, respectively (Simonis et al. These disorders are mainly inherited in an autosomal dominant manner, except for FGFR3-related CATSHL syndrome and FGFR1-relared Hartsfield syndrome, which can be inherited either in an autosomal dominant manner (mainly) or autosomal recessive manner. This NextGen test analyzes multiple genes involved in Facial dysostosis related disorders as described in the clinical section.Ĭraniosynostosis and Related Disorders: FGFR1, FGFR2, FGFR3, TWIST1 and TCF12.

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