NIH Clinical Research Studies

Protocol Number: 94-HG-0193

Active Accrual, Protocols Recruiting New Patients

Title:
Clinical and Genetic Studies of Limb Anomaly Syndromes
Number:
94-HG-0193
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.
Sponsoring Institute:
National Human Genome Research Institute (NHGRI)
Recruitment Detail
Type: Active Accrual Of New Subjects
Gender: Male & Female
Referral Letter Required: No
Population Exclusion(s): None

Eligibility Criteria:
INCLUSION CRITERIA:

Subjects with clinical manifestations of a polydactyly syndrome including; PHS, oral-facial-digital syndrome, McKusick-Kaufman syndrome, Grieg cephalopolysyndactyly syndrome, Bardet-Biedl syndrome, acrocallosal syndrome, autosomal dominant polydactyly, isolated hypothalamic hamartoma.

Blood will also be requested on unaffected relatives that could be informative for linkage studies or for determining cosegregation of mutations within families. Subjects of either gender and all ethnic and racial groups will be accepted.

Prenatal specimens (amniocentesis or CVS) will be accepted if they are previously acquired for clinically indicated reasons. Cord blood or placenta specimens may be accepted if they (or a part of them) are not needed for clinical purposes.

Specimens from patients collected at outside institutions may be accepted into the study if they were collected under an IRB-approved protocol at an MPA institution. For institutions or individual subjects not affiliated with an institution we will consent them to the NIH protocl by communicating with the subjects directly.

Coded specimens (specimens linked to identifiers but without personal identifiers attached to the sample) may be acquired from other NIH investigators, analyzed, and returned as research results to that investigator.

EXCLUSION CRITERIA:

If the patient or physician can not provide adequate medical record documentation to justify a suspected diagnosis, the family will be excluded. Similarly, if the records do not support the diagnosis the family would be excluded.

Special Instructions:
Please send genetic summary and MRI films to Joyce Turner.
Keywords:
Abnormalities, Multiple
Hypothalamic Hamartoma
Polysyndactyly
Autosomal Dominant
Mutation
Gelastic
Gelastic Seizure
Hypothalamic
Malformations
Polydactyly
Recruitment Keywords:
Pallister-Hall Syndrome
Conditions:
Epilepsy
Hamartoma
Multiple Abnormalies
Syndactyly
Investigational Drug(s):
None
Investigational Device(s):
None

Contacts:
Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:
GLI3 frameshift mutations cause autosomal dominantPallister-Hall syndrome

Linkage mapping and phenotypic analysis of autosomaldominant Pallister-Hall syndrome

Pallister-Hall syndrome

Active Accrual, Protocols Recruiting New Patients

If you have:


Command Menu Bar

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home


Clinical Center LogoWarren Grant Magnuson Clinical Center (CC)
National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/16/2004

Search The Studies Help Questions