science

Nicolaides–Baraitser syndrome

Nicolaides–Baraitser syndrome is a science topic covered in the lgStudy science library. This page brings together a partial reference excerpt, illustrations, worked examples, real-world applications and a short study plan, so you can understand Nicolaides–Baraitser syndrome rather than just read about it. In short: 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 330 cases worldwide. NCBRS is a distinct condition and well recognizable once the symptoms have been identified.

Key takeaways

Nicolaides–Baraitser syndrome belongs to science; place it in that map before memorising details.
Learn the definition first, then one example that makes the definition concrete.
Connect Nicolaides–Baraitser syndrome to a quantity you can measure, compute or draw — that is where exam questions come from.
Reproduce the core statement of Nicolaides–Baraitser syndrome from memory before moving on to harder problems.

Reference excerpt

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 330 cases worldwide. NCBRS is a distinct condition and well recognizable once the symptoms have been identified. Another condition associated with changes in the SMARCA2 gene is 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.

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.

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. Other authors later suggested to name the entity after the authors who had first described it.

References

External links

Nicolaides Baraitser Syndrome (NCBRS) Website Nicolaides Baraitser Syndrome Website (Spanish)

Illustrations

Worked examples

Example 1 — a first encounter with Nicolaides–Baraitser syndrome

Start with the simplest possible case. Write down what Nicolaides–Baraitser syndrome claims or describes in one sentence, then invent the smallest concrete situation in which that sentence is true. In science, the smallest case is usually a single object, a single equation or a single measurement. Check that every symbol or term in your sentence has a meaning in that case.

Example 2 — changing one variable

Take the situation from Example 1 and change exactly one quantity: double it, halve it, or set it to zero. Predict what should happen to Nicolaides–Baraitser syndrome before you calculate. Comparing your prediction with the result is the fastest way to find out whether you understand the idea or only the words.

Example 3 — an exam-style question

Typical questions about Nicolaides–Baraitser syndrome ask you to (a) state it precisely, (b) apply it to given data, and (c) explain a limitation. Practise writing all three answers in under five minutes; the third part is what separates a full-mark answer from an average one.

Applications of Nicolaides–Baraitser syndrome

In research: Nicolaides–Baraitser syndrome appears in science research whenever the underlying quantities have to be modelled precisely. Papers usually cite it as a starting assumption and then explore where it breaks down.
In technology and industry: Engineering practice reuses Nicolaides–Baraitser syndrome in design rules, simulations and safety margins. Knowing the idea lets you read a specification sheet and understand why the numbers look the way they do.
In the classroom: Nicolaides–Baraitser syndrome is common in secondary-school and first-year university syllabi. It links to neighbouring topics Syndromes, so understanding it makes those chapters shorter.
In everyday life: Look for Nicolaides–Baraitser syndrome outside the textbook — in sport, cooking, traffic, electronics or the sky above you. An example you found yourself is remembered far longer than one you were given.

Ask Teacher Smith questions about this articleOpens your AI tutor with a question about “Nicolaides–Baraitser syndrome” →

Affiliate

Preply — study more efficiently by working with a personal tutor. 50% off.

How to study Nicolaides–Baraitser syndrome in 20 minutes

Read the reference excerpt below once, without taking notes.
Close the page and write down what Nicolaides–Baraitser syndrome means in your own words.
Compare your version with the excerpt and mark what you missed.
Work through the three examples above with pen and paper.
Explain Nicolaides–Baraitser syndrome out loud to somebody else — or to Teacher Smith in the lgStudy chat.

Frequently asked questions

What is Nicolaides–Baraitser syndrome in simple terms?

Why does Nicolaides–Baraitser syndrome matter?

Because it connects several science ideas at once: it gives you a definition you can apply, a quantity you can calculate, and a way to check whether a result is plausible.

How should I study Nicolaides–Baraitser syndrome?

Read the excerpt, restate it from memory, then work through the examples and applications listed on this page. The five-step study plan above takes about twenty minutes.

What does this page cover?

It gives you a compact reference excerpt plus original lgStudy explanations, examples, applications and study material on Nicolaides–Baraitser syndrome.