The facio‐audio‐symphalangism syndrome: report of a case and review of the literature

Hurvitz, S. A.; Goodman, Richard M.; Hertz, Marjorie; Katznelson, M B; Y, Sack

doi:10.1111/j.1399-0004.1985.tb01219.x

Cited by 29 publications

(6 citation statements)

References 4 publications

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“…Multiple synostoses syndrome has also been described as WL symphalangism‐brachydactyly syndrome [Herrmann, 1974; Higashi and Inoue, 1983] and facioaudiosymphalangism [Hurvitz et al, 1985; van den Ende et al, 2005]. Linkage analysis of a family with multiple synostoses syndrome mapped to the same locus (17q21–q22) as proximal symphalangism [Krakow et al, 1998], and mutations in the NOG gene were later described in several families with multiple synostoses syndrome [Dawson et al, 2006; Debeer et al, 2005; Emery et al, 2009; Gong et al, 1999; Takahashi et al, 2001] (Table 1).…”

Section: Phenotypesmentioning

confidence: 99%

A comprehensive review of reported heritable noggin‐associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term:NOG‐related‐symphalangism spectrum disorder (NOG‐SSD)

2011

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ABSTRACT:The NOG gene encodes noggin, a secreted polypeptide that is important for regulating multiple signaling pathways during human development, particularly in cartilage and bone. The hallmark of NOG-related syndromes is proximal symphalangism, defined by abnormal fusion of the proximal interphalangeal joints of the hands and feet. Many additional features secondary to NOG mutations are commonly but inconsistently observed, including a characteristic facies with a hemicylindrical nose, congenital conductive hearing loss due to stapes fixation, and hyperopia. The variable clinical presentations led to the designation of five different autosomal dominant syndromes, all subsequently found to have resulted from NOG mutations. These include (1) proximal symphalangism; (2) multiple synostoses syndrome 1; (3) stapes ankylosis with broad thumbs and toes; (4) tarsal-carpal coalition syndrome; and (5) brachydactyly type B2. Herein, we review the phenotypic features associated with mutations in the NOG gene, demonstrating the overlapping characteristics of these syndromes. Due to the variable phenotypic spectrum within families and among families with the same mutation, we propose a unifying term, NOG-related symphalangism spectrum disorder (NOG-SSD), to aid in the clinical recognition and evaluation of all affected individuals with these phenotypes. These NOG gene variants are available in a new locus-specific database (https://NOG.lovd.nl).

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Section: Phenotypesmentioning

confidence: 99%

A comprehensive review of reported heritable noggin‐associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term:NOG‐related‐symphalangism spectrum disorder (NOG‐SSD)

2011

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“…These syndromes were first reported by Cushing (Cushing, 1915) and Vesell (Vessel, 1960). In 1990, similar overlapping clinical syndromes were recognized as stapes ankylosis with broad thumbs and toes (SABTT), which is also known as TeunisseneCremer syndrome (Teunissen and Cremers, 1990), proximal symphalangism (SYM1) (Hurvitz et al, 1985), multiple synostoses syndrome 1(SYNS1) (Da-Silva et al, 1984), tarsal-carpal coalition syndrome (TCC) and brachydactyly type B2 (BDB2). These syndromes were thought to be non-identical at first, but direct sequence analysis of genes showed that mutations in NOG induce these syndromes, which are typical phenotypes of NOG mutations.…”

Section: Introductionmentioning

confidence: 96%

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes

Ishino

Takeno

Hirakawa

2015

European Journal of Medical Genetics

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“…This gene encodes a secreted protein, noggin, a bone morphogenetic protein antagonist essential for normal bone and joint development in humans and mice. 3 NOG gene mutations leading to aberrant functions of the noggin protein have been found in some syndromes involving digital anomalies, including SYM1, 1 multiple synostosis syndrome (SYNS1), 4 facioaudiosymphalangism, 5 tarsal-carpal coalition syndrome, 6,7 stapes ankylosis with broad thumb and toes (SABTT) 8 and brachydactyly type B2. 9 Because these syndromes share several overlapping features, it is sometimes difficult to reach an exact diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism

et al. 2014

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In this study, we describe three unrelated Japanese patients with hearing loss and symphalangism who were diagnosed with proximal symphalangism (SYM1), atypical multiple synostosis syndrome (atypical SYNS1) and stapes ankylosis with broad thumb and toes (SABTT), respectively, based on the clinical features. Surgical findings in the middle ear were similar among the patients. By next-generation and Sanger sequencing analyses, we identified two novel mutations, c.559C>G (p.P178A) and c.682T>A (p.C228S), in the SYM1 and atypical SYNS1 families, respectively. No pathogenic changes were found in the protein-coding regions, exon-intron boundaries or promoter regions of the NOG, GDF5 or FGF9 genes in the SABTT family. Such negative molecular data suggest there may be further genetic heterogeneity underlying SYNS1, with the involvement of at least one additional gene. Stapedotomy resulted in good hearing in all patients over the long term, indicating no correlation between genotype and surgical outcome. Given the overlap of the clinical features of these syndromes in our patients and the molecular findings, the diagnostic term 'NOG-related-symphalangism spectrum disorder (NOG-SSD)' is advocated and an unidentified gene may be responsible for this disorder.

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The facio‐audio‐symphalangism syndrome: report of a case and review of the literature

Cited by 29 publications

References 4 publications

A comprehensive review of reported heritable noggin‐associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term:NOG‐related‐symphalangism spectrum disorder (NOG‐SSD)

A comprehensive review of reported heritable noggin‐associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term:NOG‐related‐symphalangism spectrum disorder (NOG‐SSD)

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism

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