Congenital Ear and Nasal Anomalies
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Scope of this subject
This cluster of papers focuses on CHARGE syndrome, a genetic disorder caused by mutations in the CHD7 gene. It covers a wide range of topics including the phenotypic spectrum, diagnostic criteria, craniofacial and neurological abnormalities, as well as related conditions such as choanal atresia and hypogonadotropic hypogonadism.
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Research vocabulary
CHARGE syndrome; choanal atresia; inner ear malformation; congenital ear anomalies; CHD7; ear anomalies; ear malformations; bilateral choanal atresia; congenital nasal malformation; congenital inner ear malformation; middle ear malformation; inner ear anomalies; congenital nasal obstruction; congenital choanal atresia; unilateral choanal atresia; choanal stenosis; branchio-oto-renal syndrome; external ear malformation; cochlear hypoplasia; middle ear anomalies; choana; external auditory canal atresia; cochlear malformation; Mondini malformation; oculo-auriculo-vertebral spectrum
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Local answer status
No owner-reviewed answer has been published for this exact subject page. This is a gap in this collection; it does not establish that the answer is unavailable elsewhere.
Numeric address and provenance
Morton address: 38360074137560482 · morton4x16-v1
Coordinates: (4, 27, 2716, 13738). The address interleaves categorical identifier bits. Nearby addresses are not guaranteed to describe semantically similar subjects.
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