About weissenbacher-zweymuller syndrome

What is weissenbacher-zweymuller syndrome?

Stickler syndrome refers to a group of disorders of connective tissue. Connective tissue, which is distributed throughout the body, multiple organ systems can be affected. The specific symptoms present in Stickler syndrome often vary greatly from one individual to another. Affected individuals may not have all of the symptoms .The eyes, ears, skeleton and joints are most often affected. Affected individuals may also have distinctive facial features and palate abnormalities.

One of the first signs in Stickler syndrome is nearsightedness (myopia), in which objects close by are seen clearly but objects that are far away appear blurry. Myopia may vary from mild to severe in Stickler syndrome, but generally is not progressive (does not get worse). Myopia may be detectable shortly after birth, but the onset varies and may not develop until adolescence or even adulthood in some cases.

Stickler syndrome is characterized by the following clinical features: vitreoretinal degeneration, myopia, cataracts, retinal holes and detachments, sensorineural hearing loss, a characteristic facial appearance with mid facial flatness, small chin, long philtrum; palatal abnormalities, including cleft palate, bifid uvula or high arched palate; musculoskeletal problems including loose joints, scoliosis, chest deformities, Legg-Calve-Perthe's disease; early onset degenerative osteoarthritis (onset before age 40 years by xray); and mitral valve prolapse. An affected person does not need to have all of these features. In fact, the clinical picture is very variable even among affected people in the same family.

Four distinct forms of Stickler syndrome have been identified in the medical literature based on location of the mutated gene and inheritance pattern and at least one other form exists with an as yet unknown mutation location.

Stickler syndrome was first described in the medical literature in 1965 and 1965 by Gunnar Stickler et al., who called the disorder hereditary progressive arthro-ophthalmopathy. Stickler syndrome refers to a group of disorders of connective tissue. Connective tissue, which is the material between cells of the body that gives the tissue form and strength, is found all over the body. Connective tissue is made up of a protein known as collagen of which there are several different varieties found in the body. Stickler syndrome often affects the connective tissue of the eye, especially in the interior of the eyeball (vitreous humor), the specialized tissue that serves as a buffer or cushion for bones at joints (cartilage) and the ends of the bones that make up the joints of the body (epiphysis).

What are the causes for weissenbacher-zweymuller syndrome?

Weissenbacher-Zweymüller syndrome is caused by mutations in the COL11A2 gene. This gene provides instructions for making one component of type XI collagen, which is a complex molecule that gives structure and strength to the connective tissues that support the body's joints and organs. Type XI collagen is found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the inner ear and the nucleus pulposus, which is the center portion of the discs between vertebrae.

At least one mutation in the COL11A2 gene can cause Weissenbacher-Zweymüller syndrome. This mutation disrupts the assembly of type XI collagen molecules. The defective collagen weakens connective tissues in many parts of the body, including the long bones, spine, and inner ears, which impairs bone development and underlies the other signs and symptoms of this condition. It is not well understood why "catch-up" bone growth occurs in childhood.

What are the risk factors for weissenbacher-zweymuller syndrome?

Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. The features of this condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III.
All of these conditions are caused by mutations in the same gene, and in some cases, it can be difficult to tell them apart. Some researchers believe they represent a single disorder with a range of signs and symptoms.
Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are wider than usual at the ends.
1. A mutation in the COL11A2 gene can cause Weissenbacher-Zweymüller syndrome. This mutation disrupts the assembly of type XI collagen molecules.
2. The defective collagen weakens connective tissues in many parts of the body, including the long bones, spine, and inner ears, which impairs bone development and underlies the other signs and symptoms of this condition.
3. It is not well understood why "catch-up" bone growth occurs in childhood.
4. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
5. Most cases of this condition result from a new mutation in the gene that occurs during the formation of reproductive cells or in early embryonic development. These cases occur in people with no history of the disorder in their families.

Symptoms
Skeletal abnormalities,Hearing loss,Distinctive facial features
Conditions
Arms and legs are unusually short,The thigh and upper arm bones are wider than usual
Drugs
Symptomatic treatment and calcium supplements

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