1. Mendelian
  2. Rare Diseases
  3. AURAL ATRESIA, CONGENITAL; CAA

Aural Atresia, Congenital; Caa

Table of contents:

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).

Genes related to Aural Atresia, Congenital; Caa

  • TSHZ1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Aural Atresia, Congenital; Caa

  • Hearing impairment
  • Delayed speech and language development
  • Conductive hearing impairment
  • Atresia of the external auditory canal
  • Stenosis of the external auditory canal
  • Hyposmia
  • Bilateral conductive hearing impairment
  • Congenital conductive hearing impairment
  • Hypoplasia of the olfactory bulb

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Aural Atresia, Congenital; Caa Is also known as aural atresia, congenital, with hyposmia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Aural Atresia, Congenital; Caa Recommended genes panels

Panel Name, Specifity and genes Tested/covered
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL (Spain).

RUNX2, SALL1, TSHZ1, BMP4, SEMA3E, SF3B4, SH3BP2, SHH, SIX1, SIX3, SKI, SNAI2, SMC1A, SOX10, TBX22, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2 , (...)

View the complete list with 114 more genes
Specificity
1 %
Genes
100 %
TSHZ1.

By Fulgent Genetics Fulgent Genetics (United States).

TSHZ1
Specificity
100 %
Genes
100 %

You can get up to -6 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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