Preferred Label : Aural atresia, congenital;
Symbol : CAA;
CISMeF acronym : CAA;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Aural atresia, congenital, with hyposmia;
Description : Altmann (1955) was the first to describe a congenital aural atresia (CAA) classification,
which has been modified over the years (Cremers et al., 1988; Schuknecht, 1989; Jahrsdoerfer
et al., 1992). In CAA type I, there is bony or fibrous atresia of the lateral part
of the external auditory canal and an almost normal medial part and middle ear. CAA
type II is the most frequent type and is characterized by partial or total aplasia
of the external auditory canal. CAA type IIA involves an external auditory canal with
either complete bony atresia of the medial part or partial aplasia that ends blindly
in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized
by bony stenosis of the total length of the external auditory canal. CAA type III
involves bony atresia of the external auditory canal and a very small or absent middle-ear
cavity (summary by Feenstra et al., 2011).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the teashirt zinc finger homeobox-1 gene (TSHZ1, 614427.0001);
Prefixed ID : #607842;
Origin ID : 607842;
UMLS CUI : C1842937;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
