Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome 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

Inborn skeletal malformations
Al-Gazali-Bakalinova syndrome
Brachydactyly
Branchio-oculo-facial syndrome
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome due to tenascin-X deficiency
Hydrolethalus 2
Lacrimoauriculodentodigital syndrome
Multiple synostoses syndrome
Multiple synostoses syndrome 1
NOG
Multiple synostoses syndrome 2
GDF5
Multiple synostoses syndrome 3
FGF9
NOG
Multiple synostoses syndrome 3
Orofacial cleft 11
Orofaciodigital syndrome
Periodontal Ehlers-Danlos syndrome
Proximal symphalangism
Renal tubular acidosis with arthrogryposis
Simpson-Golabi-Behmel syndrome
Stapes ankylosis with broad thumbs and toes
Syndactyly type 5
Synpolydactyly type 1
Tarsal-carpal coalition syndrome
Tatton-Brown-Rahman syndrome
Townes-Brocks syndrome
Trigonocephaly 2
Van Maldergem syndrome 2

References:

1.

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

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2.

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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3.

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

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4.

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

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5.

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

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6.

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

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7.

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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8.

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

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9.

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

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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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17.

OMIM.ORG article

Omim 186500 [^]
18.

Orphanet article

Orphanet ID 3237 [^]
Update: April 29, 2019