Deafness-enamel hypoplasia-nail defects syndrome

Orpha code: 3220OMIM code: 616617

Definition

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
Classification

Malformation syndrome

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

No additional description.

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