About dolichostenomelia

What is dolichostenomelia?

The word dolichostenomelia is derived from the Greek terms 'dolichos', 'steno' and 'melia' meaning long, narrow and of the limbs, respectively. It is a condition in human beings in which the limbs of a person are uncommonly long and narrow. It primarily affects the connective tissue. It is a popular symptom of different hereditary diseases, such as Marfan syndrome and Homocystinuria.

Marfan Syndrome: A rare autosomal dominant disorder that highly affects the connective tissue of the body. It is caused due to mutation in FBN1, a gene responsible to make fibrillin, resulting in abnormal connective tissues. Dolichostenomelia is a notable symptom of the skeletal system, along with scoliosis and abnormally flexible joints of hands and feet. The most commonly affected body organs are the eyes, bones and the lungs. Although in severe cases the heart and aorta are affected as there might be tricuspid valve collapse and aortic aneurysm.

Homocystinuria (HCU): An autosomal recessive trait that causes problems in metabolism. This is caused due to the deficiency of cystathionine beta-synthase, also known as methionine synthase. It can also be caused due to the deficiency of vitamins such as pyridoxine, cyanocobalamin and folic acid. One of the prominent musculoskeletal symptoms of this disease is dolichostenomelia. An accumulation of homocysteine, an amino acid, in the serum and an increased amount of release of homocysteine from urine is the characteristic feature of this disease.The condition of dolichostenomelia has been reported in one of the episodes of the crime drama television series, Rizzoli & Isles. The character Maura Isles went on a date with a man who suffered from dolichostenomelia, deducing that the man must suffer from Marfan Syndrome.



What are the symptoms for dolichostenomelia?

Dolichostenomelia is a condition in which the arms and legs grow abnormally long. The abnormal growth of limbs causes the body's extremities to be narrow and long, resulting in unusual flexibility and movement. Dolichostenomelia is also referred to as congenital contractural arachnodactyly. This disease is inherited in an autosomal dominant pattern. Here are some symptoms of dolichostenomelia.

1)People with dolichostenomelia are very tall with long arms and legs.

2)They also have unusually long and slender fingers and toes.

3)Another symptom of dolichostenomelia is permanently Bent joints. permanently bent joints or contractures can cause restricted movement in knees, ankles, elbows and hips. 

4)Individuals with dolichostenomelia may also have permanently flexed fingers. 

5)People with dolichostenomelia can also have Underdeveloped muscles and a rounded upper back. Sometimes, the rounded upper back also has curves to the side, known as kyphoscoliosis. Kyphoscoliosis is a disease in which the thoracolumbar spine appears to have excessively deviated at multiple planes. This condition leads to deviation of normal curvature and can even include rotation of the spinal axis as well. This spine curvature can appear in a front to back and side to side curve pattern.

Other symptoms of dolichostenomelia include having permanently bent fingers and toes, also known as camptodactyly. 

1) The ears may appear crumbled, and the chest may look abnormally protruding. The protruding of the chest is also known as pectus carinatum.

2) Congenital contractural arachnodactyly can cause heart issues like the enlargement of blood vessels that transport blood from the heart to other parts of the body.

3) It can also lead to leakage in valves that are responsible for controlling blood flow. 

4) The abnormality may also affect the head and face, like a tiny jaw, prominent forehead, unusually wide head or narrow head. 

5) Dolichostenomelia can also affect eyesight, leading to nearsightedness or myopia.

Some studies say that dolichostenomelia could be associated with aortic root dilation. This condition can lead to extra widening of the opening where the aorta connects with the heart chamber.A rare type of congenital contractural arachnodactyly also leads to abnormalities in the heart and digestive system, in addition to physical abnormality. Such individuals do not manage to live past infancy.Dolichostenomelia does not affect the life span per se, but the life expectancy varies with severity. 



What are the causes for dolichostenomelia?

Dolichostenomelia, also known as congenital contractual arachnodactyly, is a condition where limbs like legs and arms start growing unusually long. Dolichostenomelia also leads to slender and narrow fingers and toes and other symptoms that sometimes may also affect the heart and digestive system as well. The causes of Dolichostenomelia include: Dolichostenomelia can occur due to changes or mutations in the fibrillin-2 (FBN2) gene. Fibrillin-2 (FBN2) gene is responsible for providing instructions for making an essential protein called fibrillin-1. This protein gets transported out of cells to an extracellular matrix. This matrix is an intricate lattice of many other proteins and molecules and helps in forming spaces between cells. A mutation of this gene can prevent the making of mentioned protein. If fibrillin-1 isn't available, it'll prevent the formation of microfibrils resulting in abnormal tissues. Such mutations affect the connective tissues in the body. Issues with connective tissues further influence the growth and development of bones in toes and fingers and arms and legs, sometimes leading to usually long limbs. It was doubted that Marfan Syndrome and dolichostenomelia had been the same disorder for years because of almost similar medical symptoms. However, recent studies prove that the mutations occur in different genes proving that dolichostenomelia is not precisely the same as Marfan syndrome. Even though dolichostenomelia is a distinct disorder, its similarities with Marfan syndrome made it difficult to find the right incidence of dolichostenomelia. Another important thing to note is that Dolichostenomelia may not always be due to some underlying health issues. Often people are also born with slender fingers and toes. Studies are going on to understand the true cause of dolichostenomelia, and other research has also found overlapping symptoms with Lorys Dietz syndrome. 



What are the treatments for dolichostenomelia?

Dolichostenomelia is the abnormal growth of long and narrow extremities of human bodies such as arms and legs. In some cases, it also affects the joints of people with unusual movement and flexibility. Although no permanent cure for dolichostenomelia has been found yet, our medical sciences have progressed enough to help the patients live longer and healthier lives. In the early days, people died at a quite young age due to this. But now, people suffering from dolichostenomelia have lived a normal life span as any other. Here are a few ways in which this symptom can be treated-Physical therapy helps extremely with the abnormalities found in the joints. The therapy makes the joints more mobile with controlled movements. Physiotherapy also helps with another form of dolichostenomelia - muscle hypoplasia. This usually affects the calf muscles. Physical therapy helps with this condition as well and relieves the patient from pain.In severe conditions, surgery is best recommended for instant help. Extensive outdoorsy activities and heavy workouts should be avoided. Light games are encouraged.Scoliosis, also known as kyphosis, is a progressive and constantly growing symptom of dolichostenomelia. Bracing and surgical treatment is highly advised to help with scoliosis. The opinion of the spine experts must be heeded.For protruding or sunken breastbone and sternum, surgery is advisable. An orthopedist, a doctor who deals with casting, bracing and surgery of bones and their abnormalities, should be asked for advice and regular check-ups. Many more symptoms and developments may arise. They should be treated as soon as they show the first signs. Any delay can lead to severe consequences.Regular checks of limbs should be done. Physicians and physiotherapists can monitor the growth and development of any kind of symptom that might be asymptomatic. It should be a part of the schedule of the patient. There are many support groups for people who suffer from dolichostenomelia. For moral and emotional support, patients should enroll in such groups and learn how to live with this or any kind of genetic disorder much more easily.



What are the risk factors for dolichostenomelia?

Dolischoma is a human syndrome in which the limbs are generally longer than what is normal i.e., the arm span is greater than the height of the individual. This can cause the body to be slightly disproportionate. It is a common feature of kinds of hereditary disorders of connective tissue, classified broadly as the Marfan syndrome. The risk factors involved for dolichostenomelia are:

1) Increased infection rate during or post any operation.

2) Postoperative Neurological deficits and abnormalities due to abnormal length of limbs.

3) Increased chances of pseudarthrosis, a result of failed attempted spinal fusion.

4) Blood loss can be higher than normal post any injury, trauma, or during surgery.

5) Cardiovascular issues: usually due to disproportionate limbs and body size, the muscles in patients suffering from dolichostenomelia or Marfan’s syndrome, can have problems with the heart and circulatory system like:Weakened aortic walls,Dilation of the aorta,Cystic medial degeneration of valves,Aortic aneurysm,Aortic dissection.

6) Problems related to the eyes and vision: Early-onset of problems like cataracts and glaucoma,Risk of retinal tears,Lens dislocation.

7) Dural tears are common post spinal surgeries and can cause severe problems to patients already suffering from Marfan's syndrome with dolichostenomelia.

8) Orthopedic complications arise due to abnormal skeletal structure: Long bone overgrowth causes dolichostenomelia which is usually seen in people with abnormally tall height combined with a thin frame seeming disproportionate. Studies have shown that sportspersons involved in games like basketball and volleyball with tall and lean frames are often patients suffering from Marfan’s syndrome with cardiovascular complications like aortic enlargement. The human musculoskeletal system suffers greatly in the case of dolichostenomelia and corrective surgeries combined with regular medical checkups of the cardiovascular, nervous, and ocular systems are necessary to keep the risk factors at bay.



Is there a cure/medications for dolichostenomelia?

It is difficult to create a diagnosis for a hereditary or uncommon condition like dolichostenomelia. Marfan syndrome (dolichostenomelia) is a condition that affects the body's connective tissues, which are a set of tissues that help to keep the body's structure and support internal organs as well as other tissues. Marfan syndrome is difficult to diagnose since the symptoms vary so much from person to person. Because the symptoms of Marfan syndrome do not always appear throughout childhood, it is possible that it will not be diagnosed until the adolescent years. A genetic test can confirm a diagnosis of Marfan syndrome in 99 percent of cases. However, it's a costly process because the gene can mutate in over 3,000 different ways. A comprehensive physical examination and a detailed assessment of a person's medical and family history are used to diagnose Marfan syndrome in most instances.Resources for Testing. The Genetic Testing Registry (GTR) has details on the genetic tests available for this disorder. Health care providers and researchers are the intended audiences for the GTR. Patients and consumers who have particular questions regarding a genetic test should speak with a doctor or a genetics expert.

Treatment:

Joint contracture physical therapy improves joint mobility and reduces the symptoms of muscular hypoplasia (usually in the calf muscles). Surgery may be required in extreme situations. Bracing and/or surgical treatment are frequently required since kyphosis/scoliosis is progressing. It is advised to consult an orthopedist. In case other symptoms arise, they should be dealt with as they emerge. Regular doctor appointments should be made to track the progression and development of symptoms.



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