Marfanoid
(Redirected from Marphanoid syndrome type De Silva)
Marfanoid is a term used to describe individuals who have physical characteristics similar to those seen in Marfan syndrome, but who do not meet the diagnostic criteria for the syndrome. These characteristics can include tall stature, long limbs, and joint hypermobility.
Characteristics
The physical characteristics associated with Marfanoid individuals can vary widely. Some may have only a few of the features associated with Marfan syndrome, while others may have many. These can include:
- Tall stature
- Long limbs
- Joint hypermobility
- Long, thin fingers and toes (arachnodactyly)
- A high, arched palate
- Flat feet
- Scoliosis
- Pectus excavatum or pectus carinatum
- Eye problems, such as nearsightedness or dislocation of the lens
Causes
The cause of Marfanoid characteristics in individuals who do not have Marfan syndrome is not well understood. It is thought that a variety of genetic and environmental factors may play a role. Some individuals may have a related connective tissue disorder, such as Ehlers-Danlos syndrome or Loeys-Dietz syndrome, which can cause similar physical features.
Diagnosis
Diagnosis of Marfanoid characteristics can be challenging, as there is no specific test for the condition. Instead, doctors typically rely on a physical examination and a review of the individual's medical and family history. In some cases, genetic testing may be used to rule out Marfan syndrome or other related conditions.
Treatment
Treatment for Marfanoid individuals typically focuses on managing any physical symptoms or health problems that may arise as a result of their physical characteristics. This can include physical therapy for joint hypermobility, corrective surgery for skeletal abnormalities, and regular eye exams to monitor for potential vision problems.
See also
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Contributors: Prab R. Tumpati, MD