What causes Coffin-Siris syndrome?

What causes Coffin-Siris syndrome?

Coffin-Lowry syndrome is caused by mutations in the RSK2 gene and is inherited as an X-linked dominant genetic trait. Males are usually more severely affected than females.

Is Coffin-Siris syndrome life expectancy?

In the absence of long-term studies, information on life span in individuals with Coffin-Siris syndrome is not available. Children have been reported to die of aspiration pneumonia and/or seizures, although this is not common [Schrier et al 2012].

What is Coffin syndrome?

Coffin-Lowry syndrome (CLS) is a rare genetic disorder characterized by intellectual disability; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities.

How does Coffin Siris syndrome affect speech?

Speech Delay: Development of speech abilities may be delayed in those with Coffin-Siris syndrome. Distinctive Facial Features: These include wide nose, thicker eyelashes and brows, thick lips, wider mouth, and flat nasal bridge. The eyes may also appear abnormal.

How does Coffin-Siris syndrome affect speech?

Is Coffin Lowry syndrome fatal?

Treatment for Coffin-Lowry syndrome is symptomatic and supportive. Affected individuals should have regular cardiac, hearing and visual examinations. Patients should be monitored for progressive kyphoscoliosis which can be life threatening if the cardiorespiratory system becomes compromised.

What is Nicolaides Baraitser syndrome?

In people with Nicolaides-Baraitser syndrome, a lack of subcutaneous fat in the hands makes the finger joints appear larger than normal. Over time, the fingertips become broad and oval shaped. Additionally, there is a wide gap between the first and second toes (known as a sandal gap ).

What do you need to know about Coffin Siris syndrome?

Summary Summary. Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features.

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