Johnson neuroectodermal syndrome

Orpha code: 2316OMIM code: 147770

Definition

Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.

Disease data
Classification

Malformation syndrome

Synonyms
Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome
Zespół Johnsona i McMillina
Zespół łysienia, braku węchu, głuchoty i hipogonadyzmu
Alopecia-anosmia-deafness-hypogonadism syndrome
Johnson-McMillin syndrome
ORPHA code
2316
OMIM code
147770
ICD10 code
Q87.8
ICD11 code
LD27.0Y

No additional description.

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