Lachiewicz Sibley syndrome

Lachiewicz Sibley Syndrome

Lachiewicz Sibley Syndrome (pronounced: la-che-vich sib-lee sin-drome) is a rare genetic disorder characterized by a range of physical and developmental abnormalities.

Etymology

The syndrome is named after the two doctors, Dr. Paul F. Lachiewicz and Dr. A. H. Sibley, who first described the condition in the medical literature in 1980.

Definition

Lachiewicz Sibley Syndrome is a genetic disorder that primarily affects the nervous system, musculoskeletal system, and cardiovascular system. It is characterized by intellectual disability, short stature, hypotonia (low muscle tone), microcephaly (small head size), and congenital heart defects.

Symptoms

The symptoms of Lachiewicz Sibley Syndrome can vary greatly from person to person. However, common symptoms include:

Diagnosis

Diagnosis of Lachiewicz Sibley Syndrome is typically made based on the presence of characteristic symptoms, a detailed patient history, and thorough clinical evaluation. Genetic testing can confirm the diagnosis.

Treatment

Treatment of Lachiewicz Sibley Syndrome is symptomatic and supportive, focusing on the specific symptoms in each individual. This may include physical therapy, special education, and medications to manage symptoms.

Prognosis

The prognosis for individuals with Lachiewicz Sibley Syndrome varies. The severity of the condition and the presence of other health conditions will factor into the prognosis.

External links

Medical encyclopedia article on Lachiewicz Sibley syndrome
Wikipedia's article - Lachiewicz Sibley syndrome

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Lachiewicz Sibley syndrome