Smith-Magenis syndrome , SMS (skrót)

People with Smith-Magenis syndrome most often have no history of the condition in their family.

Smith-Magenis syndrome affects an estimated 1 in 25,000 individuals.

Smith-Magenis syndrome is a chromosomal condition related to chromosome 17.

The gene is within the Smith-Magenis syndrome region on chromosome 17.

Heart and kidney defects also have been reported in people with Smith-Magenis syndrome, though they are less common.

Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life.

Treatment for Smith-Magenis syndrome relies on managing its symptoms.

People with Smith-Magenis syndrome have engaging personalities, but most also have behavioral problems.

Repetitive self-hugging is a behavioral trait that may be unique to Smith-Magenis syndrome.

Smith-Magenis Syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2.

Smith-Magenis syndrome.

RAI1 is a transcription factor associated with Smith-Magenis syndrome.

The loss of other genes in the deleted region may help explain why the features of Smith-Magenis syndrome vary among affected individuals.

A deletion in the chromosomal region 17p11.2 has been associated with Smith-Magenis Syndrome, a genetic developmental disorder.

Most children with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw.

In humans, it is found in a region of chromosome 17 that is commonly deleted in Smith-Magenis syndrome.

Smith-Magenis Syndrome (SMS) is a developmental disorder that affects many parts of the body.

Skin picking is also common in those with certain developmental disabilities; for example, Prader-Willi syndrome and Smith-Magenis syndrome.

A small percentage of people with Smith-Magenis syndrome have a mutation in the RAI1 gene instead of a chromosomal deletion.

However, further testing is required for variations of Smith-Magenis syndrome that are caused by a mutation of the RAI1 gene as opposed to a deletion.

Both Potocki-Lupski and Smith-Magenis syndromes arise through a faulty non allelic homologous recombination mechanism.

Smith-Magenis syndrome (SMS) is a rare disorder that manifests as a complex set of traits including facial abnormalities, unusual behaviors, and developmental delay.

Smith-Magenis syndrome (SMS)is a complex syndrome involving intellectual disabilities, sleep disturbance, behavioural problems, and a variety of craniofacial, skeletal, and visceral anomalies.

In molecular biology, Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding), also known as SMCR2 is a long non-coding RNA.

Its reciprocal disease is Smith-Magenis syndrome (SMS), in which the chromosome portion duplicated in PTLS is deleted altogether.