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  2. Diseases
  3. Al Gazali Sabrinathan Nair syndrome
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Al Gazali Sabrinathan Nair syndrome


Title


Other Names:
Osteogenesis imperfecta retinopathy seizures intellectual deficit; Al Gazali-Nair syndrome
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2773

Disease definition
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.

Visit the Orphanet disease page for more resources.
Last updated: 12/26/2006

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 7 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of vision
Abnormality of sight
Vision issue
[ more ]
0000504
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Optic atrophy 0000648
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
0002757
Seizures
Seizure
0001250
Severe global developmental delay 0011344
Wormian bones
Extra bones within cranial sutures
0002645
Showing of 7 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2019
Do you have updated information on this disease? We want to hear from you.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • The Brittle Bone Disorders Consortium (BBD) is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research on Osteogenesis Imperfecta (OI). The goal of the consortium is to learn more about the disease, develop therapies, and to inform the public about the latest research and information about OI. The BBD has a contact registry for patients who wish to be contacted about clinical research opportunities and updates on the progress of the research projects.

    For more information on the registry see: https://www.rarediseasesnetwork.org/registry/index.htm

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Al Gazali Sabrinathan Nair syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • NIH Hosts Rare Disease Day Event, Twitter Chat
    January 24, 2019

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
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Find out how with the NCATS Toolkit.

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