Study of Clinical and Molecular Manifestations of Genetic Disorders

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Dec 9, 2002

Keywords

ClinConnect Summary

Individuals and their families affected by disorders with a potentially genetic basis within six broad categories will be evaluated over time to characterize the natural and clinical history of various specific disorders. Medical and laboratory evaluations will be completed to identify areas of management concern that have not been previously described. Further protocols will be developed addressing specific disorders once a number of affected individuals have been investigated and is sufficient to query various aspects of those disorders. Issues for both diagnosis and medical management of...

Gender

ALL

Eligibility criteria

• Patients and their families with known or suspected genetic disorders within the following categories will be recruited:
• • Hereditary connective tissue disorders;
• • Phacomatoses;
• • Chromosomal disorders;
• • Dysmorphic syndromes;
• • Neuromuscular or neurological disorders;
• • Inherited immunological and hematologic disorders.