Misdiagnosis of Marfan syndrome

Alternative diagnoses list for Marfan syndrome:

For a diagnosis of Marfan syndrome, the following list of conditions have been mentioned in sources as possible alternative diagnoses to consider during the diagnostic process for Marfan syndrome:

• Tall stature
• Ankylosing spondylitis
• Syphilis
• Temporal arteritis
• Takayasu's arteritis
• Homocystinuria
• Ehlers-danlos syndrome
• Idiopathic mitral valve prolapse

Diseases for which Marfan syndrome may be an alternative diagnosis

The other diseases for which Marfan syndrome is listed as a possible alternative diagnosis in their lists include:

• Homocystinuria
• Klinefelter syndrome

Marfan syndrome Diagnosis: Book Excerpts

• DIAGNOSTIC WORKUP - CHEST DEFORMITY
• Ask the Following Questions - SCOLIOSIS
• Differential Diagnosis - Scoliosis & Kyphosis
• Differential Diagnosis - Scoliosis
• Differential Diagnosis - Asymmetric Limbs
• Diagnosis - Marfan syndrome
• Diagnosis - Scoliosis
• History and physical examination - Salivation, increased [Polysialia, ptyalism]
• Diagnosis - Scoliosis
• History - Salivation, increased
• Approach to the Diagnosis - SCOLIOSIS
• Teething - DIAGNOSIS - Teething

Common Misdiagnoses and Marfan syndrome

Untreated patients of Marfan's die at age 30: Marfan's syndrome is an autosomal disorder of the connective tissues. It affects the connective tissue of the skeletal, ocular and cardiovascular system. The patient is usually tall and thin with long digits, high arched palate and loose joints. He may also present with ocular and cardiac deformities. The diagnosis is based on the family history and co-relating all the findings. Of concern is aortic root dilatation which occurs in these patients and hence an annual echocardiogram is required. It must be discriminated from acromegaly, gigantism, fragile X syndrome and thyrotoxicosis by means of blood investigations. If untreated the patient dies at the age of 30 or 40 years. Genetic counselling for the family is needed.

General Misdiagnosis Articles

Read these general articles with an overview of misdiagnosis issues.

• Misdiagnosis Overview
• How Common is Misdiagnosis?
• Over-Diagnosed Diseases
• Under-Diagnosed Diseases
• Types of Misdiagnosis
• Wrong Type Misdiagnosis
• Why Does Misdiagnosis Occur?
• Difficult Diseases to Diagnose
• More premium medical articles ...

About misdiagnosis:

When checking for a misdiagnosis of Marfan syndrome or confirming a diagnosis of Marfan syndrome, it is useful to consider what other medical conditions might be possible misdiagnoses or other alternative conditions relevant to diagnosis. These alternate diagnoses of Marfan syndrome may already have been considered by your doctor or may need to be considered as possible alternative diagnoses or candidates for misdiagnosis of Marfan syndrome. For a general overview of misdiagnosis issues for all diseases, see Overview of Misdiagnosis.

 » Next page: Undiagnosed Marfan syndrome

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• Undiagnosed Marfan syndrome
• Misdiagnosis of Underlying Causes of Marfan syndrome
• Inheritance and Genetics of Marfan syndrome
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