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Article

Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?

ORL; journal for oto-rhino-laryngology and its related specialties - 1 Jan 2000

Nakashima Takahiro, Ganaha Akira, Tsumagari Shougo, Nakamura Takeshi, Yamada Yuusuke, Nakamura Eriko, Usami Shin-Ichi, Tono Tetsuya

Abstract excerpt

We describe a dominant Japanese patient with progressive conductive hearing loss who was diagnosed with NOG-related symphalangism spectrum disorder (NOG-SSD), a spectrum of congenital stapes fixation syndromes caused by NOG mutations. Based on the clinical features, including proximal symphalangism, conductive hearing loss, hyper-opia, and short, broad middle, and distal phalanges of the thumbs, his family was...

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Identifiers

PMID: 33588412
DOI: 10.1159/000512668

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?PMID 33588412Read ↗

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.Semantic proximity Read ↗

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).Semantic proximity Read ↗

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.Semantic proximity Read ↗

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.Semantic proximity Read ↗

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.Semantic proximity Read ↗

Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder.Semantic proximity Read ↗

Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations.Semantic proximity Read ↗

Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment.Semantic proximity Read ↗

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.Semantic proximity Read ↗

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.Semantic proximity Read ↗

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Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.Semantic proximity Read ↗

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