Thickened earlobes-conductive deafness syndrome

Orpha code: 2405OMIM code: 128980

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Escher-Hirt syndrome
Zespół Eschera i Hirta
Thickened earlobes-conductive hearing loss syndrome
Kod ORPHA
2405
Kod OMIM
128980
Kod ICD10
H90.0
Kod ICD11
LD2H.Y

No additional description.

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