Is Coffin Siris syndrome the same as Coffin Lowry Syndrome?
Main. In 1966 Coffin, Siris, and Wegienka1 described a syndrome in two unrelated boys that has become known as the Coffin-Lowry Syndrome (CLS).
Can Coffin Siris syndrome be prevented?
Through physical therapy, special education, speech therapy, as well as social services, toddlers and children with this condition are better able to achieve their potential. With the right network of support and care, Coffin-Siris syndrome can be taken on.
What is the ICD 10 code for Coffin Siris?
|Classification||D ICD-10: Q87.1 OMIM: 135900 MeSH: C536436 DiseasesDB: 32018 SNOMED CT: 10007009|
|External resources||Orphanet: 1465|
How is Coffin-Lowry inherited?
Coffin-Lowry syndrome is caused by changes (mutations) in the RPS6KA3 gene and is inherited in an X-linked dominant pattern. Males are usually more severely affected than females.
How many cases of Coffin-Siris syndrome are there?
Coffin-Siris syndrome is a rare condition that, for unknown reasons, is diagnosed in females more frequently than in males. Approximately 200 cases have been reported in the medical literature.
What is the life expectancy of someone with Coffin Lowry Syndrome?
Current literature reports life expectancy as a mean of 20.5 years. Cardiopulmonary compromise is a frequent cause of death and would be significantly affected by their progressive kyphosis.
How common is Coffin-Siris syndrome?
What are the signs and symptoms of Coffin Siris syndrome?
Although there are many variable signs and symptoms, hallmarks of Coffin-Siris syndrome include variable degrees of learning disability, developmental delays, underdeveloped fifth (pinky) fingers or toes, and characteristic facial features.
What happens to scalp hair with Coffin Siris syndrome?
Reports suggest that sparse scalp hair improves with age. Individuals with CSS also have characteristic skeletal abnormalities.
When to test for Coffin Siris in pregnancy?
Especially if a genetic history of Coffin-Siris syndrome is noted, doctors can also opt for molecular testing of the fetus prior to birth. 3 This involves the use of ultrasound—a process of ultrasonography—to assess kidney or cardiac abnormalities. Alternately, forming fetal cells can be sampled and tested after 10 to 12 weeks of pregnancy.
How is Coffin Siris syndrome ( DPF2 ) transmitted?
Mutations in DPF2 have also recently been described in individuals with a “Coffin-Siris like” phenotype. Researchers believe the disease can be transmitted genetically as an autosomal dominant trait but most cases appear to be the result of a new mutation.