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

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

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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of vision	Very frequent (present in 80%-99% of cases)
Intellectual disability	Very frequent (present in 80%-99% of cases)
Optic atrophy	Very frequent (present in 80%-99% of cases)
Recurrent fractures	Very frequent (present in 80%-99% of cases)
Seizures	Very frequent (present in 80%-99% of cases)
Severe global developmental delay	Very frequent (present in 80%-99% of cases)
Wormian bones	Very frequent (present in 80%-99% of cases)

Last updated: 10/1/2017

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Research Research

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

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.

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