Category: Genetic Disorders

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Conditions and Diseases/Genetic Disorders

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• Blepharophimosis Ptosis Epicanthus Inversus Syndrome   [rate it] [review it]
  The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder.

• Dr. Greene's HouseCalls   [rate it] [review it]
  A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.

• Gene Clinics   [rate it] [review it]
  Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.

• Genetic and Rare Conditions Site   [rate it] [review it]
  Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.

• Genetic Disorders: The Links to Diet   [rate it] [review it]
  Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.

• IMMD Institute of Medical Molecular Diagnostics Ltd.   [rate it] [review it]
  The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood.

• Primary Ciliary Dyskinesia   [rate it] [review it]
  Information on a rare congenital disease.

• The UDGD Spot   [rate it] [review it]
  Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis.

• Washington University in St Louis   [rate it] [review it]
  Family resource for individuals with Papillon Lefevre, Haim-Munk Syndrome and Prepubertal Periodontis. Interested families may participate in a registry dedicated to learning about the natural history of these three conditions.

• XLH Network   [rate it] [review it]
  Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.

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