Deafness-enamel hypoplasia-nail defects syndrome

Orpha code: 3220OMIM code: 616617

Definicja

A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Hearing loss-enamel hypoplasia-nail defects syndrome
Zespół Heimlera
Heimler syndrome
Kod ORPHA
3220
Kod OMIM
616617
Kod ICD10
Q82.4
Kod ICD11
LD27.0Y

No additional description.

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