There is, however, some clinical evidence that children with Marfan have a slightly higher rate of hyperactivity and attention-deficit disorder (ADD) than the general population.
No. Down is caused by an extra chromosome while Marfan is due to a mutation in one or more genes.
Yes, Marfan syndrome is a genetic disorder. It is not a disease. It is caused by a mutation in fibrillin and is an autosomal dominant mutation. This means that if you have a Marfan causing mutation, you have Marfan, and you have a 50/50 chance of passing it on to any children you may have. Severity of Marfan can vary within a family, even though all affected family members have the same mutation. It can not skip generations.
Yes. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.
It is caused by a mutation in the gene for fibrillin-1 on chromosone 15. A variable disorder of the connective tissue that effects many organ systems including the skeleton.eyes,heart,lungs and blood vessels.
In patients with Marfan, obstructive sleep apnea is caused by the unusual flexibility of the tissues lining the patient's airway. This disturbed breathing pattern increases the risk of aortic dissection.
Marfan is an autosomal dominant disorder, which means that if someone inherits a defected gene from either parent, he will have Marfan syndrome. 75% of people with Marfan got it from their parents; the other 25% were the result of random mutations that happened in the first days or weeks of the pregnancy. This syndrome is caused by a mutation in the FBN1 gene on chromosome 15, which is necessary for structural and maintenance of elastic, connective tissue fibers. Everyone has this gene in them. There are over 600 different mutations on FBN1 that can cause Marfan. FBN1 mutations can also result in other disorders as well, like ectopia lentis and MASS Phenotype.
It is caused by a combination of the rapid growth of children with Marfan, and the looseness of the ligaments that help the spine to keep its shape.
Marfan syndrome is an autosomal dominant condition caused by a genetic mutation. The mutation occurs on chromosome 15 and affects the gene that encodes a protein called fibrillin-1. Over 100 mutations have been described, all of which impair the function of fibrillin-1. The precise reasons for the mutations are unknown. How the mutation manifests as the Marfan syndrome is also uncertain. There is mounting evidence that the fibrillin-1 defect allows for unabated activity of transforming growth factor-beta (TGF-beta), which causes the clinical manifestations of the syndrome (eg, hyperextensible joints, arachnodactyly, dislocation of the lens, aortic aneurysm). Because the condition is inherited in an autosomal dominant pattern, a parent with Marfan syndrome has a 50% chance of passing the defective gene on to his/her offspring. Some diseases are also associated with features that resemble Marfan syndrome. For example, multiple endocrine neoplasia (MEN) type III is associated with what's been called a marfanoid habitus -- patients commonly have the elongated axial bones and hyperextensible joints seen in true Marfan syndrome. MEN-III is caused by a mutation in the RET gene on chromosome 10. It is inherited in an autosomal dominant pattern.
Patients with Marfan sometimes develop dental problems related to crowding of the teeth caused by a high-arched palate. They can also develop overgrowth and inflammation of the gums, due to those being part of our connective tissue.
An autosomal genetic disorder is Huntington's disease.
Since the traits for hemophilia are carried on the X chromosome and not the Y, it is more probable for females to have a chromosome with the mutation. Since the mutation is considered recessive and males only have one X chromosome, they are more likely to portray the phenotype for hemophilia than their female counterparts.
what is morphan syndromwhat is morphan syndromMarfan syndromeA connective tissue, multisystemic disorder characterized by skeletal changes (arachnodactyly ; long limbs, joint laxity, pectus), cardiovascular defects (aortic aneurysm which may dissect, mitral valve prolapse), and ectopia lentis; autosomal dominant inheritance, caused by mutation in the fibrillin-1 gene (FBN1) on chromosome 15q.