Clinical trial · Observational
Phenotype and Etiology of Pallister-Hall Syndrome
Genetic and Clinical Studies of Congenital Anomaly Syndromes
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (3)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Malformations | — | UNRESOLVED | — |
| Multiple Abnormalies | — | UNRESOLVED | — |
| Polydactyly | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
* INCLUSION CRITERIA: Subjects with clinical manifestations of a congenital anomaly or craniofacial syndrome, or a single congenital anomaly that is also seen as part of a congenital anomaly syndrome will be considered eligible for participation in this protocol. Blood will also be requested on unaffected relatives that could be informative for linkage studies or for determining co-segregation 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 or FWA institution. 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: Patients with typical GCPS or PHS who have demonstrated GLI3 mutations may be excluded from this study. Patients with phenotypes and disorders with a high risk/benefit ratio such as late-onset, neurodegenerative, psychiatric, and cancer-predisposition disorders will be excluded from participation. Similarly, patients who are medically fragile or unable to tolerate travel to the NIH CC will not routinely be eligible for participation. Probands who are adults and decisionally-impaired are ineligible if they do not have a legal guardian who has authority to sign a consent form on their behalf.
References
Publications (3)
- BACKGROUNDKang S, Graham JM Jr, Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 1997 Mar;15(3):266-8. doi: 10.1038/ng0397-266. PMID 9054938
- BACKGROUNDKang S, Allen J, Graham JM Jr, Grebe T, Clericuzio C, Patronas N, Ondrey F, Green E, Schaffer A, Abbott M, Biesecker LG. Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. J Med Genet. 1997 Jun;34(6):441-6. doi: 10.1136/jmg.34.6.441. PMID 9192261
- BACKGROUNDBiesecker LG, Graham JM Jr. Pallister-Hall syndrome. J Med Genet. 1996 Jul;33(7):585-9. doi: 10.1136/jmg.33.7.585. No abstract available. PMID 8818945