Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Proximaler Symphalangismus

Die Cushing-Symphalangie ist eine genetisch heterogene Erkrankung. Charakteristisch sind Fusionen der proximalen Fingergelenke, Karpal- und Tarsalfusionen sowie gelegentlich einer Schallleitungsschwerhörigkeit.

Gliederung

Angeborene Skelettfelbildungen
Al-Gazali-Bakalinova-Syndrom
Brachydaktylie
Branchio-okulo-faziales Syndrom
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
Hydrolethalus 2
Kongenitale Kontraktur-Arachnodaktylie
Lakrimo-aurikulo-dento-digitales Syndrom
Lippen-Kiefer-Gaumenspalte 11
Multiple Synostosen
Orofaciodigitales Syndrom
Parodontales Ehlers-Danlos-Syndrom
Proximaler Symphalangismus
Proximaler Symphalangismus 1A
NOG
Proximaler Symphalangismus 1B
GDF5
Renale tubuläre Azidose mit Arthrogrypose
Simpson-Golabi-Behmel-Syndrom
Stapesankylose mit breiten Daumen und Zehen
Syndaktylie Typ 5
Syndrom der multiplen Synostosen 3
Synpolydaktylie Typ 1
Tarsal-Karpal-Fusions-Syndrom
Tatton-Brown-Rahman-Syndrom
Townes-Brocks-Syndrome
Trigonocephalie 2
Van Maldergem-Syndrom 2

Referenzen:

1.

Gong Y et al. (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

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2.

Takahashi T et al. (2001) Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.

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3.

None (1916) Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism).

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4.

Polymeropoulos MH et al. (1995) Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.

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5.

Smith RJ et al. (1979) Treatment of congenital deformities of the hand and forearm (first of two parts).

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6.

Kassner EG et al. (1976) Symphalangism with metacarpophalangeal fusions and elbow abnormalities.

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7.

Cremers C et al. (1985) Proximal symphalangia and stapes ankylosis.

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8.

Gorlin RJ et al. (1970) Stapes fixation a proximal symphalangism.

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9.

Wildervanck LS et al. (1967) Proximal symphalangism of fingers associated with fusion of os naviculare and talus and occurrence of two accessory bones in the feet (os paranaviculare and os tibiale externum) in an EuropeanIndonesianChinese family.

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10.

Elkington SG et al. (1967) The Talbot fingers: a study in symphalangism.

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11.

None (1960) Symphalangism, strabismus and hearing loss in mother and daughter.

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12.

None (2006) A tribute to our teacher, Dr. Judith Hall: a child with the trait of the Earl of Shrewsbury.

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13.

None (1917) Phalangeal Anarthrosis (Synostosis, Ankylosis) transmitted through Fourteen Generations.

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14.

OMIM.ORG article

Omim 185800 external link
15.

Orphanet article

Orphanet ID 3250 external link
Update: 14. August 2020
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