Symphalangism of the Cushing type 1A is an autosomal dominant disorder caused by mutations of the NOG gene. It is characterized by fusion of proximal interphalangeal joints, carpals, tarsals, and sometimes conductive hearing loss.
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Gong Y et al. (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. |
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Takahashi T et al. (2001) Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. |
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None (1916) Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism). |
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Polymeropoulos MH et al. (1995) Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. |
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Smith RJ et al. (1979) Treatment of congenital deformities of the hand and forearm (first of two parts). |
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Kassner EG et al. (1976) Symphalangism with metacarpophalangeal fusions and elbow abnormalities. |
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Cremers C et al. (1985) Proximal symphalangia and stapes ankylosis. |
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Gorlin RJ et al. (1970) Stapes fixation a proximal symphalangism. |
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Elkington SG et al. (1967) The Talbot fingers: a study in symphalangism. |
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None (1960) Symphalangism, strabismus and hearing loss in mother and daughter. |
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None (2006) A tribute to our teacher, Dr. Judith Hall: a child with the trait of the Earl of Shrewsbury. |
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None (1917) Phalangeal Anarthrosis (Synostosis, Ankylosis) transmitted through Fourteen Generations. |
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OMIM.ORG article Omim 185800 |