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.

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.

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

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.

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. Other authors have suggested later on to name the entity after the two authors that described the entity first.

External links

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