Arachnodactyly

Known as: Arachnodactylies, Arachnodactyly [Disease/Finding], Long, slender fingers 
An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar… (More)
National Institutes of Health

Related topics

Related topics

43 relations
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESISARTERIAL TORTUOSITY SYNDROMEAntley-Bixler Syndrome, Autosomal DominantAortic aneurysm, familial thoracic 3
(More)

Narrower (5)

Achard syndromeBhaskar Jagannathan syndromeJaffer Beighton syndromeKosztolanyi syndrome
(More)

Broader (1)

Congenital Disorders

Papers overview

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2008
2008
Release of the repressive activity of rice DELLA protein SLR1 by gibberellin does not require SLR1 degradation in the gid2 mutant.
The rice (Oryza sativa) DELLA protein SLR1 acts as a repressor of gibberellin (GA) signaling. GA perception by GID1 causes SLR1… (More)
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Review
2008
Review
2008
Medical management of Marfan syndrome.
Marfan syndrome is an autosomal dominant, multisystem disease characterized by long bone overgrowth and other skeletal… (More)
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2007
2007
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
Mutations involving elastic tissue proteins result in a broad spectrum of phenotypes affecting skin, skeleton, ocular and… (More)
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2005
2005
Dissection of the phosphorylation of rice DELLA protein, SLENDER RICE1.
DELLA proteins are repressors of gibberellin signaling in plants. Our previous studies have indicated that gibberellin signaling… (More)
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Review
2005
Review
2005
Treatment of aortic disease in patients with Marfan syndrome.
Marfan syndrome (MFS) is a heritable disorder of the connective tissue with a prevalence of 1 in 3000 to 5000 individuals. The… (More)
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Highly Cited
2000
Highly Cited
2000
Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.
Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS) are… (More)
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Highly Cited
1992
Highly Cited
1992
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative…
BACKGROUND The large glycoprotein fibrillin is a structural component of elastin-containing microfibrils found in many tissues… (More)
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Highly Cited
1991
Highly Cited
1991
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
MARFAN syndrome (MFS), one of the most common genetic disorders of connective tissue, is characterized by skeletal… (More)
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Highly Cited
1978
Highly Cited
1978
Dissecting aortic aneurysm associated with congenital bicuspid aortic valve.
Among 119 cases of fatal dissecting aneurysm of the aorta, exclusive of those iatrogenically caused or associated with… (More)
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Highly Cited
1969
Highly Cited
1969
Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis.
NDiviDuAI with homocystinuria 12 have been found to lack normal activity of the enzyme cystathionine synthetase.3 In many of the… (More)
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