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.