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Coffin-Lowry syndrome is a condition associated with mental retardation and delayed development, short stature, and skeletal abnormalities. Distinctive facial features (including wide-spaced and downward-slanting eyes, a short nose with a wide tip, and full lips) and soft hands with short, tapered fingers are also characteristic of this condition. Males are usually more severely affected than females, but the signs and symptoms of Coffin-Lowry syndrome range from very mild to severe in affected women.
The incidence of this condition is uncertain, but the disorder probably affects 1 in 40,000 to 50,000 births.
Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome.
The RPS6KA3 gene makes a protein that is involved in signaling within cells. Researchers believe that the protein helps control the activity of other genes and may play an important role in the central nervous system. Mutations in the RPS6KA3 gene disturb the function of the protein, but it is not well understood how mutations lead to the signs and symptoms of 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 is unknown.
This condition is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, males (who have one X chromosome in each cell) experience more severe signs and symptoms of the disorder than females (who have two X chromosomes in each cell). A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Most people with Coffin-Lowry syndrome have no history of the condition in their families. These cases are caused by new mutations in the RPS6KA3 gene.
'''Coffin-Lowry syndrome''' is a condition associated with mental retardation and delayed development, characteristic facial features, and skeleton abnormalities. Males are usually more severely affected than females, but the condition can range from very mild to severe in affected women. This condition is inherited in an X-linked dominant pattern. Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome. The RPS6KA3 gene makes a protein that is involved with signaling within cell (biology)s. Researchers believe that the protein helps control the activity of other genes and may play an important role in the central nervous system. Mutations in the RPS6KA3 disturb the function of the protein, but it is not well understood how mutations lead to the signs and symptoms of 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 is unknown. This condition is inherited in an X-linked dominant pattern. A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome (one of the two sex chromosomes). The inheritance is dominant if one copy of the altered gene is sufficient to cause the condition. In most cases, males experience more severe symptoms of the disorder than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. A majority of boys with Coffin-Lowry syndrome have no history of the condition in their families. These cases are caused by new mutations in the RPS6KA3 gene. A new mutation means that neither parent has the altered gene, but the affected individual could pass it on to his children. 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. ''This article incorporates ... [ Read More ]
Coffin-Lowry Syndrome Foundation - Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation contact details.
National Library of Medicine: Coffin-Lowry Syndrome (CLS) - A table showing the synonyms, a summary and major features.
NORD: Coffin Lowry Syndrome - General information about this syndrome, its alternative names and further resources.
NINDS: Coffin Lowry Syndrome - Information sheet compiled by the National Institute of Neurological Disorders and Stroke.
Coffin-Lowry, syndrome de - Fiche d'information pratique sur le syndrome de Coffin-Lowry, description détaillée de la maladie, signes cliniques, autre(s) site(s) internet, type(s) de consultations adaptées, laboratoire(s) de diagnostic, projet(s) de recherche en cours, réseaux de professionnels, association(s) de patients.
Coffin-Siris, syndrome de - Fiche d'information pratique sur le syndrome de Coffin-Siris, description détaillée de la maladie, signes cliniques, autre(s) site(s) internet, type(s) de consultations adaptées, laboratoire(s) de diagnostic, projet(s) de recherche en cours.