Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Multiple Synostosen

Das Schwerhörigkeit - Symphalangie-Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im NOG-Gen hervorgerufen wird. Charakteristisch sind verschiedene Synostosen der proximalen Phalangen von Fingern und Zehen, Karpal und Tarsal-Gelenken, humeroradialer Gelenke und den gelenken der Halswirbelsäule sowie auch eine 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
Multiple Synostosen 1
NOG
Multiple Synostosen 2
GDF5
NOG
Syndrom der multiplen Synostosen 3
FGF9
Orofaciodigitales Syndrom 6
Parodontales Ehlers-Danlos-Syndrom
Proximaler Symphalangismus
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.

Dawson K et. al. (2006) GDF5 is a second locus for multiple-synostosis syndrome.

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2.

Gaal SA et. al. (1987) Symphalangism and its introduction into Hawaii: a pedigree.

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3.

Higashi K et. al. (1983) Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family.

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4.

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

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5.

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

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6.

van den Ende JJ et. al. (2005) The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.

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7.

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

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8.

Wan DC et. al. (2007) Noggin suppression enhances in vitro osteogenesis and accelerates in vivo bone formation.

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9.

Lehmann K et. al. (2007) A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

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10.

Rudnik-Schöneborn S et. al. (2010) Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.

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11.

Maroteaux P et. al. (1972) [Multiple synostosis disease].

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12.

Hurvitz SA et. al. (1985) The facio-audio-symphalangism syndrome: report of a case and review of the literature.

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13.

Fuhrmann W et. al. (1966) [Dominant hereditary bilateral dysplasia and synostosis of the elbow joint, with symmetrical brachymesophalangy and brachymetacarpy as well as synostoses in the finger, carpal and tarsal region].

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14.

da-Silva EO et. al. (1984) Multiple synostosis syndrome: study of a large Brazilian kindred.

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15.

Krakow D et. al. (1998) Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

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16.

Edwards MJ et. al. (2000) Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis.

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Update: 31. März 2018