Skeleto cardiac syndrome with thrombocytopenia

Skeleto Cardiac Syndrome with Thrombocytopenia

Skeleto Cardiac Syndrome with Thrombocytopenia is a rare genetic disorder characterized by a combination of skeletal abnormalities, cardiac defects, and low platelet count (thrombocytopenia). This syndrome is part of a group of disorders that affect multiple systems in the body, leading to a variety of clinical manifestations.

Clinical Features

Individuals with Skeleto Cardiac Syndrome with Thrombocytopenia typically present with a range of symptoms that may include:

• Skeletal Abnormalities: These can include short stature, scoliosis, and other bone deformities. The skeletal issues may affect the growth and development of the individual.

• Cardiac Defects: Congenital heart defects are common in this syndrome. These may include ventricular septal defect (VSD), atrial septal defect (ASD), or other structural heart anomalies.

• Thrombocytopenia: A reduced platelet count can lead to increased bleeding tendencies, easy bruising, and prolonged bleeding times. This hematological feature is a key component of the syndrome.

Genetic Basis

The genetic cause of Skeleto Cardiac Syndrome with Thrombocytopenia is not fully understood, but it is believed to be inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations. The specific gene or genes involved have not been definitively identified, and research is ongoing to better understand the genetic underpinnings of this condition.

Diagnosis

Diagnosis of Skeleto Cardiac Syndrome with Thrombocytopenia is based on clinical evaluation, family history, and a combination of laboratory tests. These may include:

• Complete Blood Count (CBC): To assess the level of thrombocytopenia.
• Echocardiogram: To identify and evaluate cardiac defects.
• Genetic Testing: May be used to identify mutations in known genes associated with the syndrome, although this is not always possible due to the rarity of the condition.

Management

Management of Skeleto Cardiac Syndrome with Thrombocytopenia is symptomatic and supportive. It may involve:

• Cardiac Care: Monitoring and treatment of heart defects, which may include surgical interventions if necessary.
• Hematological Support: Management of thrombocytopenia may involve platelet transfusions or other supportive measures to prevent bleeding complications.
• Orthopedic Interventions: Treatment of skeletal abnormalities may require physical therapy or surgical correction.

Prognosis

The prognosis for individuals with Skeleto Cardiac Syndrome with Thrombocytopenia varies depending on the severity of the symptoms and the presence of complications. Early diagnosis and comprehensive management can improve quality of life and outcomes.

Also see

• Thrombocytopenia
• Congenital heart defect
• Skeletal dysplasia
• Genetic disorder

NIH genetic and rare disease info

• NIH info on Skeleto cardiac syndrome with thrombocytopenia

Skeleto cardiac syndrome with thrombocytopenia is a rare disease.

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