Thickened earlobes-conductive deafness syndrome

Orpha code: 2405OMIM code: 128980

Definition

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
Classification

Malformation syndrome

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl