Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Multiple synostoses syndrome 1

Deafness-Hermann type symphalangism syndrome 1 is an autosomal dominant disorder caused by mutations of the NOG gene. It is characterized by proximal symphalangism in fingers and toes as well as fusion of carpal and tarsal, humeroradial, and cervical spine joints. Often an congenital conductive hearing loss is also observed.

Systematic

Multiple synostoses syndrome
Multiple synostoses syndrome 1
NOG
Multiple synostoses syndrome 2
Multiple synostoses syndrome 3
NOG

References:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
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.

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
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].

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
Update: Sept. 26, 2018