Short stature webbed neck heart disease

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Short Stature, Webbed Neck, Heart Disease
Symptoms	Short stature, Webbed neck, Heart disease

This short stature, webbed neck, and heart disease related article is a stub.

Short stature, webbed neck, and heart disease is a congenital condition characterized by the presence of a short stature, a webbed neck, and congenital heart disease. This condition can be a feature of several genetic disorders, including Turner syndrome, Noonan syndrome, and other less common chromosomal abnormalities. The specific symptoms and severity can vary significantly among affected individuals, depending on the underlying cause and the presence of other associated anomalies.

Symptoms and Characteristics

Individuals with short stature, webbed neck, and heart disease typically present with a combination of the following features:

• Short Stature: Height significantly below average for the individual's age and sex.
• Webbed Neck: Excess skin and soft tissue creating a web-like appearance of the neck.
• Heart Disease: Congenital heart defects which can vary in type and severity. Common heart defects include atrial septal defect (ASD), ventricular septal defect (VSD), and pulmonary stenosis.

Additional symptoms may include:

• Lymphedema (swelling) in the hands and feet
• Low hairline at the back of the neck
• Broad chest with widely spaced nipples
• Skeletal abnormalities such as scoliosis

Causes

The condition can arise from various genetic abnormalities, including:

• Turner syndrome: A chromosomal disorder in females where one of the X chromosomes is missing or partially missing.
• Noonan syndrome: A genetic disorder that prevents normal development in various parts of the body; it can be caused by mutations in several genes.
• Other chromosomal abnormalities that may not have a specific syndrome name associated with them but present similar features.

Diagnosis

Diagnosis of short stature, webbed neck, and heart disease involves a combination of physical examination, medical history, and genetic testing. Imaging studies such as echocardiography are used to identify and assess the extent of heart disease. Genetic testing can confirm the presence of specific chromosomal abnormalities associated with the condition.

Treatment

Treatment is tailored to the individual's specific symptoms and may include:

• Management of heart defects, which may involve medication, surgical repair, or both.
• Growth hormone therapy to address short stature.
• Physical therapy to manage lymphedema and improve mobility.
• Psychological support to address any emotional and social challenges related to the condition.

Prognosis

The prognosis for individuals with short stature, webbed neck, and heart disease varies depending on the severity of the heart defects and the success of treatment interventions. With appropriate medical and surgical management, many individuals can lead relatively normal lives.

See also

• Genetic disorder
• Congenital heart defect
• Pediatric cardiology

Resources

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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Short stature webbed neck heart disease for any updates.

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