Syndrome with characteristics of microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.
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No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
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PHIN Preferred Term Flag
Code Flag
3332325015
Thickened earlobe with conductive deafness syndrome