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

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

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

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

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

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

• Genetic disorder
• COL11A2
• Collagen
• Dwarfism
• Hearing loss
• Arthrogryposis
• Osteopenia

NIH genetic and rare disease info

• NIH info on Weissenbacher–Zweymuller syndrome

Weissenbacher–Zweymuller syndrome is a rare disease.

Weissenbacher–Zweymuller syndrome Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.

Translate to: East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski