Weissenbacher-Zweymüller syndrome
Weissenbacher-Zweymüller syndrome is a rare genetic disorder characterized by skeletal abnormalities, hearing loss, and distinctive facial features. It was first described by Austrian physicians Gerhard Weissenbacher and Helmut Zweymüller in 1964.
Clinical Features[edit | edit source]
The clinical features of Weissenbacher-Zweymüller syndrome are typically present at birth and may include:
- Dwarfism: Affected individuals often have short stature due to delayed bone growth.
- Hearing loss: This is often severe and can be present from birth.
- Distinctive facial features: These may include a prominent forehead, wide-set eyes, and a small jaw.
- Skeletal abnormalities: These can include delayed bone growth, joint abnormalities, and a characteristic spinal curvature known as kyphoscoliosis.
Genetics[edit | edit source]
Weissenbacher-Zweymüller 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 cartilage and the formation of collagen, a protein that provides structure and strength to tissues and organs throughout the body. Mutations in the COL11A2 gene disrupt the normal development of cartilage and collagen, leading to the characteristic features of Weissenbacher-Zweymüller syndrome.
Diagnosis[edit | edit source]
Diagnosis of Weissenbacher-Zweymüller 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-Zweymüller syndrome. Treatment is symptomatic and supportive, and may include hearing aids for hearing loss, physical therapy for joint abnormalities, and surgery for severe skeletal abnormalities.
Epidemiology[edit | edit source]
Weissenbacher-Zweymüller syndrome is extremely rare, with fewer than 100 cases reported in the medical literature. It affects both males and females equally.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Weissenbacher-Zweymüller syndrome is a rare disease.
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