Coffin Lowry Syndrome In Females -

Coffin-Lowry syndromeclinical and molecular features.

Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial head and facial and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. The Coffin-Lowry syndrome CLS is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. The type of inheritance in Coffin-Lowry Syndrome is called ‘X-linked dominant inheritance.’ The condition affects both males as well as females, though the syndrome is usually mild in females.

Aug 21, 2019 · Symptoms are usually more severe in males than females. What Are The Causes Of Coffin-Lowry Syndrome? Majority of the people suffering from Coffin-Lowry Syndrome have a mutation in the RPS6KA3 gene, which is present in the short arm of chromosome X. The function of this gene is to control production of RSK2 protein. Coffin-Lowry syndrome appears to occur in all populations. The full syndrome is seen in males with lesser expression in carrier females. A prevalence range of one in 50,000-100,000 males has been cited, but no studies with complete case findings have been conducted. Coffin Lowry Syndrome is a condition that affects both a person's physicality and mentality. Symptoms include abnormal facial structure, skeletal structure, muscle structure, intellectual disability, and delayed development. Symptoms are usually a lot worst in males, but females can also be affected just as much.

Causes of Coffin Lowry Syndrome Coffin Lowry Syndrome is a disease that is involved with the mutation of RPS6KA3 gene that is responsible in making proteins in the body. Given the relative rarity of the Coffin-Lowry syndrome, these reports indicate that psychotic behaviour in affected females is a true complication rather than a spurious chance observation. Onset is usually around the age of 20 years and response to therapy is variable. 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. Males are usually more severely affected than females. Coffin–Lowry syndrome CLS is an X-linked semi-dominant disorder caused by mutations in the RSK2 gene and characterized by moderate to severe mental retardation, characteristic facial features, skeletal deformities, and tapering fingers in males. Females are usually much more mildly and variably affected thus more difficult to diagnose. Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism, anteverted nares, and a prominent frontal region.

Jul 23, 2010 · Coffin-Lowry syndrome is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary from person to person; however, males are typically more severely affected than females. Coffin-Lowry Syndrome is a genetic disorder that affects a gene on the X chromosome which is essential to protein formation used in long-term memory formation, causing intellectual disability. It is a rare disorder and in many cases, affected individuals have no family history of Coffin-Lowry. The condition typically affects males more severely than females.

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