Nicolaides–Baraitser syndrome
| Nicolaides-Baraitser syndrome - NCBRS | |
|---|---|
| Other names | NCBRS |
| Frequency | <1 / 1 000 000[1] |
Nicolaides–Baraitser syndrome (NCBRS) is a rare genetic condition caused by de novo missense mutations in the SMARCA2 gene and has only been reported in fewer than 200 cases worldwide.[2] NCBRS is a distinct condition and well recognizable once the symptoms have been identified.
The differential includes Coffin–Siris syndrome.
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 NCBRS
- 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
- Scoliosis
- Short metacarpals–metatarsals
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]
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
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Intellectual disability sparse hair brachydactyly syndrome". www.orpha.net. Retrieved 17 March 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ 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.
- ^ 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.
- ^ "Nicolaides-Baraitser syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-03-08.
- ^ 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.
- ^ 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.