left Diagnostic criteria of MFS were agreed upon internationally in 1996. However,<unk>  syndrome is often difficult to diagnose in children, as they typically do not show symptoms until reaching pubescence. A<unk>  is based on family history and a combination of major and minor indicators of the disorder, rare in the general population, that occur in one individualfor example: four skeletal signs with one or more signs in another body system such as ocular and cardiovascular in one individual. The following conditions may result from MFS, but may also occur in people without any known underlying disorder. * Aortic aneurysm or dilation * Arachnodactyly * GERD * Bicuspid aortic valve * Cysts * Cystic medial necrosis * Degenerative disk disease * Deviated septum * Dural ectasia * Early cataracts * Early glaucoma * Early osteoarthritis * Ectopia lentis * Emphysema * Iris coloboma * Above-average height * Heart palpitations * Hernias * High-arched palate * Hypermobility of the joints * Kyphosis (hunched back) * Leaky heart valve * Malocclusion * Micrognathia (small lower jaw) * Mitral valve prolapse * Myopia (nearsightedness) * Obstructive lung disease * Osteopenia (low bone density) * Pectus carinatum or excavatum * Pes planus (flat feet) * Pneumothorax (collapsed lung) * Retinal detachment * Scoliosis * Sleep apnea * Stretch marks not from pregnancy or obesity * Teeth crowded * "Narrow, thin face" * Temporomandibular joint dysfunction (TMD) Revised Ghent nosology Thumb sign; upper: normal, lower:<unk>  syndrome In 2010, the Ghent nosology was revised, and new diagnostic criteria superseded the previous agreement made in 1996. The seven new criteria can lead to a<unk> : In the absence of a family history of MFS: # Aortic root Z-score ≥ 2 AND ectopia lentis # Aortic root Z-score ≥ 2 AND an FBN1 mutation # Aortic root Z-score ≥ 2 AND a systemic score* > 7 points # Ectopia lentis AND an FBN1 mutation with known aortic pathology In the presence of a family history of MFS (as defined above): # Ectopia lentis # Systemic score* ≥ 7 # Aortic root Z-score ≥ 2 * Points for systemic score: * Wrist AND thumb sign = 3 (wrist OR thumb sign = 1) * Pectus carinatum deformity = 2 (pectus excavatum or chest asymmetry = 1) * Hindfoot deformity = 2 (plain pes planus = 1) * Dural ectasia = 2 * Protrusio acetabuli = 2 * pneumothorax = 2 * Reduced upper segment/lower segment ratio AND increased arm/height AND no severe scoliosis = 1 * Scoliosis or thoracolumbar kyphosis = 1 * Reduced elbow extension = 1 * Facial features (3/5) = 1 (dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia) * Skin striae (stretch marks) = 1 * Myopia > 3 diopters = 1 * Mitral valve prolapse = 1 The thumb sign (Steinberg's sign) is elicited by asking the person to flex the thumb as far as possible and then close the fingers over it. A positive thumb sign is where the entire distal phalanx is visible beyond the ulnar border of the hand, caused by a combination of hypermobility of the thumb as well as a thumb which is longer than usual. The wrist sign (Walker-Murdoch sign) is elicited by asking the person to curl the thumb and fingers of one hand around the other wrist. A positive wrist sign is where the little finger and the thumb overlap, caused by a combination of thin wrists and long fingers. Differential<unk>  Many other disorders can produce the same type of body characteristics as<unk>  syndrome. Genetic testing and evaluating other signs and symptoms can help to differentiate these. The following are some of the disorders that can manifest as<unk> oid": * Congenital contractural arachnodactyly, also known as Beals-Hecht syndrome * Ehlers–Danlos syndrome * Homocystinuria * Loeys–Dietz syndrome * MASS phenotype * Multiple endocrine neoplasia, type 2B * Shprintzen–Goldberg syndrome * Stickler syndrome
medical diagnosis of Marfan syndrome
symptom of Andersen–Tawil syndrome
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symptoms of Rotor syndrome
symptoms of Jervell and Lange-Nielsen syndrome
symptom of Rotor syndrome
complications of Marfan syndrome
onset of Klippel–Feil syndrome