Definition:
Weissenbacher Zweymuller Syndrome is a genetic disorder where there is abnormalities in the skeletal system of the person.
Diagnosis:
Diagnosis includes physical examination as well as examination of the family history of the person affected inasmuch as the syndrome is an inherited disease.
Treatment:
Treatment depends on the manifestation of the syndrome which may include examination of an opthalmologists in case the eye is affected and therapies.
Symptoms and Signs:
Symptoms includes abnormalities in the face, skeletal malformation and nueral tube defects. It may also lead to deafness or the Stickler syndrom type III or those which affects the eye with sickness like myopia, retinal detachment and other skeletal abnormalities.
Causes:
Weissenbacher Zweymuller Syndrome is said to be linked to mutation in the COL11A2 gene which is located on chromosomal position 6p21.3 which is said to be a code for a2 strand of Collagen trype XI (Pihlajamaa T, Prockop DJ, Faber J, et al (1998). "Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)". Am. J. Med. Genet. 80 (2): 115–20).
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weissenbacherzweymullersyndrome
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