Coffin-Lowry syndrome (CLS) is a rare genetic condition that typically causes intellectual disability in infants. Physical symptoms of CLS may also include certain head and facial characteristics, short stature, and decreased muscle tone.
The symptoms and severity of CLS can vary, and most people develop symptoms as newborns or infants. While the condition affects males and females equally, symptoms are often
In this article, we will discuss CLS, including its causes, symptoms, and treatment options.
A note about sex and gender
Sex and gender exist on spectrums. This article will use the terms “male,” “female,” or both to refer to sex assigned at birth. Click here to learn more.
While the condition usually affects males and females in equal numbers, males with CLS often have
CLS is an example of a genetic condition, which occurs due to
CLS follows an X-linked dominant inheritance pattern. As males typically only inherit one X chromosome, a variant in their only copy of this gene is sufficient to cause the condition. Females typically inherit two X chromosomes. However, having an alteration in one of the two copies of the gene is enough to cause CLS due to its dominant inheritance pattern. This is also why females usually experience less severe symptoms of CLS.
The RPS6KA3 gene is responsible for providing instructions for making a protein known as ribosomal S6 kinase 2. This protein helps regulate the activity of certain genes and has a role in signaling within cells. It is also responsible for learning, forming long-term memories, and the survival of nerve cells. As such, while researchers are unsure of the exact mechanism, producing little to none of this protein likely results in CLS symptoms.
However, some people with features of CLS do not possess alterations in the RPS6KA3 gene. In such cases, researchers are unsure of the exact cause of the condition.
Children born from a biological mother known to have a copy of a gene variation for CLS are at a 50% risk of inheriting the disorder. However, evidence suggests that around
CLS symptoms can vary from person to person, and the severity of symptoms can also vary. Below are some of the common characteristics of CLS.
People with CLS often have intellectual disabilities. Males with CLS often have
Characteristic head and facial features
There are some characteristic head and facial features that commonly occur in people with CLS. These features often
- a prominent forehead
- a prominent brow ridge with thick eyebrows
- widely spaced, down-slanted eyes
- a broad nose
- protruding nostrils
- an underdeveloped upper jaw bone
- large, low set ears
Skeletal problems may also occur in people with CLS. These can
- an excessive curvature of the spine
- an atypical prominence of the breast bone, often known as pigeon chest or pectus carinatum
- dental problems
- short, hyperextensible, tapered fingers
Other possible symptoms
Other possible features of a person with CLS may include:
- short stature
- feeding problems
- respiratory problems
- hearing impairment
- awkward gait
- heart and kidney problems
A doctor may suspect an infant has CLS according to distinctive physical symptoms. These can include the characteristic head and facial features and other physical symptoms.
Doctors may then use certain tests to confirm their diagnosis. A doctor
Currently, there is
A person with CLS may make use of the following treatment options:
- Physical therapy: Physical therapy can help a person with CLS overcome certain physical symptoms of the disorder, such as spinal curvature.
- Speech therapy: A person with CLS may undergo speech therapy to help them improve the way they communicate with those around them.
- Occupational therapy: An individual with CLS may use occupational therapy to help them carry out daily activities and gain independence.
- Medication for SIDAs: Certain medications may help prevent SIDAs from occurring. Medications
may includeantiseizure medications and benzodiazepines.
If treatments for SIDAs are ineffective, a person may have to wear a protective helmet to protect their head. They may also use a wheelchair to prevent falling and injury.
The prognosis for CLS is different from person to person. The severity of someone’s symptoms can
CLS is a rare genetic disorder that affects roughly 1 in 40,000—50,000 people. It typically causes intellectual disability and several other physical symptoms. Some physical symptoms of CLS may include tapered fingers, downward-slanting eyes, and delayed bone development.
CLS affects females and males equally. However, as it follows an X-linked dominant inheritance pattern, males often experience more severe symptoms. While there is currently no cure for CLS, treatment options are available that can help manage symptoms and improve quality of life.