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.
What is the life expectancy of someone with Coffin-Lowry syndrome?
There are several case reports of rapidly progressive kyphosis and acute paralysis. This presents a significant problem and may dramatically shorten the life span of a CLS patient. Current literature reports life expectancy as a mean of 20.5 years.
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 are the chances of a person with Coffin-Lowry syndrome passing the disease to their offspring?
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.
Is Coffin Siris syndrome hereditary?
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.
What causes Coffin Siris syndrome?
Can someone with Crouzon syndrome have kids?
Experts do not understand the exact cause of these gene mutations. Most parents who have a baby with Crouzon syndrome have normal genes. However, children with Crouzon syndrome can pass the gene on to their children. A parent with Crouzon syndrome has a 50 percent chance of having a baby that also has Crouzon syndrome.
Does Crouzon syndrome affect intelligence?
Intelligence is usually not affected. Crouzon syndrome is caused by alterations (mutations) in one of the FGFR genes, usually FGFR2, and is inherited in an autosomal dominant manner.
What is Coffin-Siris syndrome?
Coffin-Siris syndrome (CSS) is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by abnormalities of the head and facial (craniofacial) area, resulting in a coarse facial appearance.
How many cases of Coffin-Siris syndrome are there?
Coffin-Siris syndrome is a rare condition that is diagnosed in females more frequently than in males. Approximately 140 cases have been reported in the medical literature.
What is Feingold syndrome?
Definition. Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly , short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms).
What should you do if you have Coffin Lowry syndrome?
Proper management of patients with CLS, includes surveillance by performing regular hearing, dental, and vision tests; annual heart examinations; and periodic monitoring for kyphoscoliosis. Medications such as valproate, clonzapam or selective serotonin uptake inhibitors might be prescribed for drop episodes.
What does a new mutation in Coffin-Lowry syndrome mean?
A new mutation means that neither parent has the altered gene, but the affected individual could pass it on to his children. Coffin–Lowry syndrome is an X-linked disorder resulting from loss-of-function mutations in the RPS6KA3 gene, which encodes RSK2 (ribosomal S6 kinase 2).
Is the RPS6KA3 gene responsible for Coffin Lowry syndrome?
Some people with the features of Coffin–Lowry syndrome do not have identified mutations in the RPS6KA3 gene. In these cases, the cause of the condition is unknown. This condition is inherited in an X-linked dominant pattern.
What is the prognosis for Coffin Lowry syndrome?
Prognosis. The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span is reduced in some individuals with Coffin-Lowry syndrome.
How does Coffin-Lowry syndrome affect the X chromosome?
Coffin-Lowry syndrome is caused by changes (mutations) in the RSK2 and RPS6KA3 gene on the X chromosome and has been mapped to Xp22.2-p22.1. Some individuals with Coffin-Lowry syndrome do not have a detectable mutation in the RSK2 gene. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual.
What are the facial features of Coffin Lowry?
Broad Facial Features: Especially prominent in males and most visible in late childhood, those with Coffin-Lowry syndrome have a prominent forehead, widely-spaced and downwardly slanted eyes, a shorter, wide nose, as well as a wider mouth with thicker lips.
How does lack of RPS6KA3 cause Coffin Lowry syndrome?
The protein is involved in cell signaling pathways that are required for learning, the formation of long-term memories, and the survival of nerve cells. Gene mutations result in the production of little or no RPS6KA3 protein, but it is unclear how a lack of this protein causes the signs and symptoms of Coffin-Lowry syndrome.