When was Coffin-Lowry syndrome found?

Coffin-Lowry syndrome (CLS) is a rare X-linked mutation in the RSK2 gene that affects between 1/50 000 to 100 000 people. The condition was first described in 1966 by Coffin1 and in 1971 by Lowry2.

Who discovered Coffin-Lowry?

In 1972, Peter G. Procopis and B. Turner published a case study on a family of four brothers with Coffin-Lowry Syndrome, with female relatives, specifically sisters, only possessing some mild deformities and abnormalities.

How many people have Coffin-Lowry syndrome in the world?

The incidence of this condition is uncertain, but researchers estimate that the disorder affects 1 in 40,000 to 50,000 people.

How possible is it that a cure will be found for Coffin-Lowry Syndrome?

There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services. The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms.

What are the symptoms of Coffin-Lowry 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.

Is Coffin Siris syndrome the same as Coffin-Lowry Syndrome?

Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis) and unusual prominence of the breastbone (sternum) (pectus carinatum). Coffin-Lowry syndrome is caused by mutations in the RSK2 gene and is inherited as an X-linked dominant genetic trait.

Is Coffin-Lowry syndrome 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.

What are the chances of a person with Coffin-Lowry Syndrome passing the disease to their offspring?

Offspring of a proband Women with CLS have a 50% chance of transmitting the pathogenic variant to each child; sons who inherit the pathogenic variant will be affected; daughters will be heterozygous and at high risk for at least some degree of developmental delay and mild physical signs of CLS.