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