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The Steinberg sign, also known as the thumb sign, is one of the clinical examination tests for Marfan disease in the hands. It is a clinical test in which the tip of the thumb extends beyond the palm when the thumb is clasped in the clenched hand. [13] [14] [15]
Mutations in the fibrillin-2 gene, in chromosome 5q23, or the fibrillin-1 gene, at chromosome 15q21.1 Arachnodactyly (" spider fingers ") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot.
Multiple endocrine neoplasia type 2B [1] [2] Homocystinuria [3] Ehlers-Danlos syndrome: [4] Marfanoid habitus is generally associated with kyphoscoliotic Ehlers-Danlos. Snyder–Robinson syndrome at SMS, whose incidence is about 1 in 5,000-10,000 in all ethnic groups; Perrault syndrome : Marfanoid habitus is a nonspecific feature of Perrault ...
Dennie–Marfan syndrome is a syndrome in which there is association of spastic paraplegia of the lower limbs and mental retardation in children with congenital syphilis. [1] Both sexes are affected, and the onset of the disease can be acute or insidious, with slow progression from weakness to quadriplegia .
1 Radial side of the proximal phalanx of the index finger: 2 Radial side of the middle phalanx of the index finger: 3 Tip of the index finger: 4 Tip of the middle finger: 5 Tip of the ring finger: 6 Tip of the little finger: 7 Distal interphalangeal joint crease of the little finger: 8 Proximal interphalangeal joint crease of the little finger: 9
The Foundation provides information about Marfan syndrome and funds research for the purposes of saving lives and improving the quality of life for people affected by the condition which is a genetic connective tissue disorder. The Foundation also lobbies Congress to fund Marfan syndrome research and engages in its own fundraising activities. [1]
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome ...
Marfanoid habitus, a highly arched palate and several other features of LFS can be found with Marfan syndrome, a connective tissue disorder. [4] The finding of aortic root dilation in both disorders suggests that a mutation in an unspecified connective tissue regulating gene may contribute to the etiology of LFS. [1] [5] [8] [13]