Try out PMC Labs and tell us what you think. Learn More. We examined the prevalence of known facial features of Marfan syndrome MFS —dolicocephaly, malar hypoplasia, enophthalmos, retrognathia, and down-slanting palpebral fissures—and the diagnostic utility sensitivity, specificity, accuracy, predictive values, and likelihood ratios of using them for screening and diagnosis. Frontal and lateral photographs of 76 subjects with MFS average age Three physicians experienced with MFS rated each photograph for the presence of each feature and indicated whether each photograph triggered a suspicion for MFS.
What are the signs?
What are the signs? | The Marfan Foundation
People are born with Marfan syndrome and related conditions, but they may not notice any features until later in life. However, features of Marfan syndrome and related disorders can appear at any age. Some people have many features at birth or as young children. Other people develop features, including aortic enlargement, as teens or even as adults. Some features are progressive, meaning they can get worse as people age.
The diagnostic value of the facial features of Marfan syndrome
Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton. People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes.
Johns Hopkins researchers have compiled what they believe are reliable lists of tell-tale physical signs to help doctors recognize children with Marfan and Loeys-Dietz syndromes. Timely and early diagnosis of both genetic disorders can mean the difference between life and death, but some of the most common physical features are also found in people with neither of the syndromes, which can cause confusion. Published as two separate studies in the August issue of the Journal of Bone and Joint Surgery , the two lists enumerate physical features that in certain combinations are highly suggestive of either Marfan or Loeys-Dietz syndromes, connective tissue disorders similar in presentation but caused by different genetic glitches. Many of the signal features of these disorders involve the face, skull, joints and spine, making them easy to spot during a physical exam, but not always easy to sort out. The lists will help them do so.