Nicolaides-Baraitser Syndrome

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Xu, R. Nicolaides-Baraitser Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4589 (accessed on 26 September 2026).

Xu R. Nicolaides-Baraitser Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4589. Accessed September 26, 2026.

Xu, Rita. "Nicolaides-Baraitser Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4589 (accessed September 26, 2026).

Xu, R. (2020, December 24). Nicolaides-Baraitser Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4589

Xu, Rita. "Nicolaides-Baraitser Syndrome." Encyclopedia. Web. 24 December, 2020.

Nicolaides-Baraitser Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/nicolaides-baraitser-syndrome

Nicolaides-Baraitser syndrome is a condition that affects many body systems. Affected individuals can have a wide variety of signs and symptoms, but the most common are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly), recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development.

genetic conditions

References

Castori M, Covaciu C, Rinaldi R, Grammatico P, Paradisi M. A rare cause ofsyndromic hypotrichosis: Nicolaides-Baraitser syndrome. J Am Acad Dermatol. 2008 Nov;59(5 Suppl):S92-8. doi: 10.1016/j.jaad.2008.05.016.
Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A,Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC. Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A. 2009 Aug;149A(8):1628-40. doi:10.1002/ajmg.a.32956.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium.Phenotype and genotype in Nicolaides-Baraitser syndrome. Am J Med Genet C SeminMed Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409.Review.
Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N,Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M,Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J,Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, MageeA, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D,Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR.Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.Nat Genet. 2012 Feb 26;44(4):445-9, S1. doi: 10.1038/ng.1105.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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