Nicolaides–Baraitser syndrome

Nicolaides–Baraitser syndrome is a rare genetic condition caused by de novo missense mutations in the SMARCA2 gene and has only been reported in less than 100 cases worldwide.[2] NCBRS is a distinct condition and well recognizable once the symptoms have been identified.

Nicolaides-Baraitser syndrome - NCBRS
Other namesNCBRS
Frequency<1 / 1 000 000[1]

Symptoms

The most common symptoms of Nicolaides–Baraitser syndrome are mild to severe developmental delays with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, and prominent finger joints and broad distal phalanges.[3]

Major Features of Nicolaides–Baraitser Syndrome

Mild prenatal growth retardation
Moderate postnatal growth retardation
Mild to severe developmental delay
Severely impaired speech
Seizures
Microcephaly
Sparse hair
Progressive skin wrinkling
Thick, anteverted alae nasi
Long and broad philtrum
Large mouth
Thin upper and thick lower vermilion
Progressive prominence of distal phalanges
Progressive prominence of inter-phalangeal joints
Short metacarpals–metatarsals
[3]

Cause

This condition occurs via mutations in the SMARCA2 gene. In rare instances this condition can occur via a mutation in the ARID1B gene.[4]

Prognosis

History

Paola Nicolaides was a pediatric neurologist and Michael Baraitser a clinical geneticist, both working in Great Ormond Street Hospital for Children in London. They saw a young girl with an unusual combination of signs and symptoms, and thought this to be a recognizable entity. They published this in a medical journal in 1993.[5] Other authors later suggested to name the entity after the authors who had first described it.[6]

References
  1. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Intellectual disability sparse hair brachydactyly syndrome". www.orpha.net. Retrieved 17 March 2019.
  2. Van Houdt, Jeroen K J.; Nowakowska, Beata Anna; Sousa, Sérgio B.; Van Schaik, Barbera D C.; Seuntjens, Eve; Avonce, Nelson; Sifrim, Alejandro; Abdul-Rahman, Omar A.; Van Den Boogaard, Marie-José H.; Bottani, Armand; Castori, Marco; Cormier-Daire, Valérie; Deardorff, Matthew A.; Filges, Isabel; Fryer, Alan; Fryns, Jean-Pierre; Gana, Simone; Garavelli, Livia; Gillessen-Kaesbach, Gabriele; Hall, Bryan D.; Horn, Denise; Huylebroeck, Danny; Klapecki, Jakub; Krajewska-Walasek, Malgorzata; Kuechler, Alma; Lines, Matthew A.; Maas, Saskia; MacDermot, Kay D.; McKee, Shane; et al. (Apr 2012). "Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome". Nat Genet. 44 (4): 445–9, S1. doi:10.1038/ng.1105. PMID 22366787.
  3. Sousa SB, Abdul-Rahman OA, Bottani A, et al. (August 2009). "Nicolaides-Baraitser syndrome: Delineation of the phenotype". Am. J. Med. Genet. A. 149A (8): 1628–40. doi:10.1002/ajmg.a.32956. PMID 19606471.
  4. "Nicolaides-Baraitser syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-03-08.
  5. Nicolaides P, Baraitser M (July 1993). "An unusual syndrome with mental retardation and sparse hair". Clin. Dysmorphol. 2 (3): 232–6. doi:10.1097/00019605-199307000-00007. PMID 8287185.
  6. Morin G, Villemain L, Baumann C, Mathieu M, Blanc N, Verloes A (October 2003). "Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals". Clin. Dysmorphol. 12 (4): 237–40. doi:10.1097/00019605-200310000-00005. PMID 14564210.
Classification


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