Weissenbacher–Zweymuller syndrome
Weissenbacher–Zweymuller syndrome is a rare genetic disorder characterized by specific skeletal abnormalities, hearing loss, and distinctive facial features. It was first described by Austrian physicians G. Weissenbacher and H. Zweymüller in 1964.
Clinical Features[edit | edit source]
The clinical features of Weissenbacher–Zweymuller syndrome include dwarfism, hearing loss, and distinctive facial features such as a prominent forehead, wide-set eyes (hypertelorism), and a small lower jaw (micrognathia). Other features can include joint abnormalities, such as arthrogryposis (stiffness or fixation of the joints), and skeletal abnormalities, such as delayed bone age and osteopenia (low bone density).
Genetics[edit | edit source]
Weissenbacher–Zweymuller syndrome is caused by mutations in the COL11A2 gene. This gene provides instructions for making a protein that is essential for the normal development of collagen, a protein that provides structure and strength to connective tissues throughout the body. Mutations in the COL11A2 gene disrupt the normal development of collagen, leading to the characteristic features of Weissenbacher–Zweymuller syndrome.
Diagnosis[edit | edit source]
Diagnosis of Weissenbacher–Zweymuller syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the COL11A2 gene.
Treatment[edit | edit source]
There is currently no cure for Weissenbacher–Zweymuller syndrome. Treatment is symptomatic and supportive, and may include physical therapy for joint stiffness, hearing aids for hearing loss, and surgery for severe skeletal abnormalities.
Prognosis[edit | edit source]
The prognosis for individuals with Weissenbacher–Zweymuller syndrome varies. Some individuals have a normal lifespan with mild symptoms, while others may have severe complications that can be life-threatening.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Weissenbacher–Zweymuller syndrome is a rare disease.
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