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Phenotype and Etiology of Pallister-Hall Syndrome

NCT00001404 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 1170

Last updated 2019-12-16

No results posted yet for this study

Summary

We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl syndrome (BBS), Oro-facial digital syndromes (OFDs), and other overlapping phenotypes. These disorders comprise a syndrome community of overlapping manifestations and we hypothesize that this is a reflection of a common mechanistic pathway. This hypothesis be addressed by a combined clinical-molecular approach where we bring up to 50-100 patients with each disorder to the NIH clinical center for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder. Specimens will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening, and cell biologic studies of normal mutant proteins.

Conditions

  • Malformations
  • Multiple Abnormalies
  • Polydactyly

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Leslie G Biesecker, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
1994-08-18
Completion
2016-01-07

Countries

  • United States
  • Turkey (Türkiye)

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00001404 on ClinicalTrials.gov