And Bone Fragility Mental Retardation Myopia With Midface Prominence Severe Hypertelorism

Also Known As:

Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility; Hamamy syndrome

Networked: 2 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dysostoses: 91
      - Craniofacial Dysostosis: 243
        Hypertelorism: 176
        And Bone Fragility Mental Retardation Myopia With Midface Prominence Severe Hypertelorism: 2
  - And Bone Fragility Mental Retardation Myopia With Midface Prominence Severe Hypertelorism: 2
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Craniofacial Dysostosis: 243
      - Hypertelorism: 176
        And Bone Fragility Mental Retardation Myopia With Midface Prominence Severe Hypertelorism: 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Craniofacial Dysostosis: 243
        Hypertelorism: 176
        And Bone Fragility Mental Retardation Myopia With Midface Prominence Severe Hypertelorism: 2
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - And Bone Fragility Mental Retardation Myopia With Midface Prominence Severe Hypertelorism: 2
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        And Bone Fragility Mental Retardation Myopia With Midface Prominence Severe Hypertelorism: 2
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - And Bone Fragility Mental Retardation Myopia With Midface Prominence Severe Hypertelorism: 2
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - And Bone Fragility Mental Retardation Myopia With Midface Prominence Severe Hypertelorism: 2
Eye Diseases: 3522
- Refractive Errors: 3499
  - Myopia: 8363
    - And Bone Fragility Mental Retardation Myopia With Midface Prominence Severe Hypertelorism: 2

Related Diseases

1.	Inborn Genetic Diseases (Disease, Hereditary)

Experts

1.	Al Sayed, Zeina R: 1 article (01/2021)
2.	Bonnard, Carine: 1 article (01/2021)
3.	Canac, Robin: 1 article (01/2021)
4.	Chariau, Caroline: 1 article (01/2021)
5.	Charpentier, Flavien: 1 article (01/2021)
6.	Cimarosti, Bastien: 1 article (01/2021)
7.	David, Laurent: 1 article (01/2021)
8.	Forest, Virginie: 1 article (01/2021)
9.	Gaborit, Nathalie: 1 article (01/2021)
10.	Gaignerie, Anne: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to And Bone Fragility Mental Retardation Myopia With Midface Prominence Severe Hypertelorism:

1.	Adenosine Monophosphate (AMP)IBA 01/01/2019 - "This study, reports for the first time, the neuropsychological profile of a child with Hamamy syndrome-a rare genetic disorder with only five published cases (Buget, Canbolat, Akgul, & Kucukay, 2015). "
2.	SodiumIBA 01/01/2021 - "In accordance with the prolonged QRS interval observed in Hamamy syndrome patients, a slower ventricular action potential depolarization due to sodium current reduction was observed on electrophysiological analyses performed on patient-derived cardiomyocytes, confirming the functional role of IRX5 in electrical conduction. "