thickened earlobes-conductive deafness syndrome
MONDO:0007504
Thickened earlobes-conductive deafness syndrome is characterized by 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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Thickened earlobes-conductive deafness syndrome
Thickened earlobes-conductive deafness syndrome, also known as Escher-Hirt syndrome, or Schweitzer Kemink Graham syndrome, is a rare genetic disorder which is characterized by ear and jaw abnormalities associated with progressive hearing loss. Two families worldwide have been described with the disorder.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.