Nicolaides–Baraitser syndrome

Nicolaides-Baraitser syndrome
Classification and external resources
OMIM	601358

Nicolaides-Baraitser syndrome (NBS) is a rare condition which has only been reported in 23 cases worldwide. NBS is a distinct condition and well recognizable once the symptoms have been identified, and has probably been underdiagnosed until now.^[1]

Symptoms

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.^[1]

Major Features of Nicolaides–Baraitser Syndrome

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 metacarpals–metatarsals
^[1]

Patients that have been diagnosed with Nicolaides–Baraitser Syndrome

Nicolaides-Baraitser syndrome(NBS) is a rare condition which has only been reported in 23 cases worldwide.
Below are some pictures of the 23.

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  Aged 10

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  Aged 4

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  Aged 10

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  Aged 9

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  Aged 5

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  Aged 9

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  Aged 16

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  Aged 11

Naming

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, thought this to be a recognizable entity. They published this in a medical journal in 1993.^[2] Other authors have suggested later on to name the entity after the two authors that described the entity first.^[3]

References

1. ^ ^{a b c} 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. 
2. ^ Nicolaides P, Baraitser M (July 1993). "An unusual syndrome with mental retardation and sparse hair". Clin. Dysmorphol. 2 (3): 232–6. PMID 8287185. 
3. ^ 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. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=0962-8827&volume=12&issue=4&spage=237. 

External links

• Nicolaides–Baraitser syndrome :Delineation phenotype
• Paola Nicolaides and Michael Baraitser
• Facebook support group