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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
NIH genetic and rare disease info[edit source]
Skeleto cardiac syndrome with thrombocytopenia is a rare disease.
| Skeleto cardiac syndrome with thrombocytopenia Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
