Nicolaides–Baraitser syndrome

From Wikipedia, the free encyclopedia
  (Redirected from Nicolaides-Baraitser syndrome)
Jump to: navigation, search
Nicolaides-Baraitser syndrome
Classification and external resources
OMIM 601358

Nicolaides–Baraitser syndrome (NBS) is a rare genetic condition caused by de novo missense mutations in the SMARCA2 gene and has only been reported in 44 cases worldwide.[1] NBS is a distinct condition and well recognizable once the symptoms have been identified.

Symptoms[edit]

The most common symptoms of Nicolaides–Baraitser syndrome are severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, and prominent finger joints and broad distal phalanges.[2]

Major Features of Nicolaides–Baraitser Syndrome[edit]

Mild prenatal growth retardation
Moderate postnatal growth retardation
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 metacarpalsmetatarsals
[2]

Pictures of the hands of NBS Pictures of the feet of NBS

Naming[edit]

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.[3] Other authors later suggested to name the entity after the authors who had first described it.[4]

References[edit]

  1. ^ PMID 22366787
  2. ^ a b 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. 
  3. ^ 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. 
  4. ^ 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:10.1097/01.mcd.0000086852.79917.e3. PMID 14564210. 

External links[edit]