Beemer–Langer syndrome

Beemer–Langer syndrome is a rare genetic disorder characterized by a range of physical abnormalities and developmental delays. It is also known as Beemer syndrome or Beemer Ertbruggen syndrome.

Symptoms and Signs

The symptoms of Beemer–Langer syndrome can vary greatly among affected individuals. Common symptoms include craniofacial abnormalities, limb abnormalities, and genital abnormalities. Other symptoms may include intellectual disability, growth retardation, and congenital heart defects.

Causes

Beemer–Langer syndrome is caused by mutations in the genes that are involved in the development of various body tissues. The exact genes involved are currently unknown. The disorder is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

Diagnosis

Diagnosis of Beemer–Langer syndrome is based on the presence of characteristic clinical findings. Genetic testing may be used to confirm the diagnosis, although the specific genetic cause of the disorder is not currently known.

Treatment

There is no cure for Beemer–Langer syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy.

Prognosis

The prognosis for individuals with Beemer–Langer syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan, while others may have life-threatening complications.

See also

• Genetic disorder
• Autosomal recessive
• Physical therapy
• Occupational therapy
• Speech therapy

NIH genetic and rare disease info

• NIH info on Beemer–Langer syndrome

Beemer–Langer syndrome is a rare disease.

Beemer–Langer syndrome Resources
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