Schneckenbecken dysplasia

Autosomal recessive - en

Schneckenbecken dysplasia is a rare genetic disorder characterized by severe skeletal abnormalities. The condition is named after the German term "Schneckenbecken," which translates to "snail pelvis," reflecting the distinctive shape of the pelvis in affected individuals.

Presentation

Individuals with Schneckenbecken dysplasia typically present with short stature, short limbs, and a markedly abnormal pelvis. The pelvis is often described as having a snail-like appearance due to its unique shape. Other common features include macrocephaly (an abnormally large head), midface hypoplasia (underdevelopment of the middle facial region), and micromelia (abnormally short limbs).

Genetics

Schneckenbecken dysplasia is inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the mutated gene, one from each parent. The specific gene or genes involved in Schneckenbecken dysplasia have not been definitively identified, but it is believed to involve mutations that affect cartilage and bone development.

Diagnosis

The diagnosis of Schneckenbecken dysplasia is typically made based on clinical features and radiographic findings. X-rays of the pelvis reveal the characteristic snail-like shape. Genetic testing may be used to confirm the diagnosis and to identify the specific mutation involved.

Management

There is currently no cure for Schneckenbecken dysplasia. Management is primarily supportive and may include physical therapy, occupational therapy, and surgical interventions to address specific skeletal abnormalities. Regular monitoring by a multidisciplinary team of healthcare providers is essential to manage the various aspects of the condition.

Prognosis

The prognosis for individuals with Schneckenbecken dysplasia varies depending on the severity of the skeletal abnormalities and associated complications. Some individuals may have a relatively normal lifespan, while others may experience significant health challenges.

See also

• Skeletal dysplasia
• Autosomal recessive disorder
• Genetic testing
• Physical therapy

External links

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