Deafness enamel hypoplasia nail defects

Also Known As:

Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects; Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects; Heimler syndrome; Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Stomatognathic Diseases: 705
- Tooth Diseases: 33
  - Tooth Abnormalities: 33
    - Developmental Defects of Enamel: 166
      - Amelogenesis Imperfecta: 276
        Deafness enamel hypoplasia nail defects: 4
- Stomatognathic System Abnormalities
  - Tooth Abnormalities: 33
    - Developmental Defects of Enamel: 166
      - Amelogenesis Imperfecta: 276
        Deafness enamel hypoplasia nail defects: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Stomatognathic System Abnormalities
    - Tooth Abnormalities: 33
      - Developmental Defects of Enamel: 166
        Amelogenesis Imperfecta: 276
        Deafness enamel hypoplasia nail defects: 4
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Sensorineural Hearing Loss: 3974
        Deafness enamel hypoplasia nail defects: 4
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Deafness enamel hypoplasia nail defects: 4
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Malformed Nails: 54
    - Deafness enamel hypoplasia nail defects: 4
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Deafness enamel hypoplasia nail defects: 4

Related Diseases

1.	Malformed Nails (Pachyonychia)
2.	Sensorineural Hearing Loss
3.	Amelogenesis Imperfecta

Experts

1.	Al-Sheqaih, Nada: 2 articles (10/2016 - 10/2015)
2.	Newman, William G: 2 articles (10/2016 - 10/2015)
3.	Ratbi, Ilham: 2 articles (10/2016 - 10/2015)
4.	Sefiani, Abdelaziz: 2 articles (10/2016 - 10/2015)
5.	Bloch-Zupan, A: 1 article (01/2020)
6.	Dollfus, H: 1 article (01/2020)
7.	Jonard, L: 1 article (01/2020)
8.	Loundon, N: 1 article (01/2020)
9.	Marlin, S: 1 article (01/2020)
10.	Mechaussier, S: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Deafness enamel hypoplasia nail defects:

Retinaldehyde (Retinal)IBA

01/01/2023 - "Ultra-Widefield Imaging of Retinal Flecks and Corresponding Subretinal Hyperreflective Deposits in Heimler Syndrome."
06/01/2011 - "To describe the retinal imaging findings in the index patient with Heimler syndrome (OMIM #234580). "
10/01/2016 - "Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. "
10/01/2015 - "Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. "