Table 1.

Inclusion criteria for patient groups

	Column A All required	Column B Minimum of one required	Column C Confirming features1
OFD-overlap	Polydactyly	Oral frenulae Oral hamartoma Clef lip/palate Cerebellar vermis hypoplasia Tibial hypoplasia
PHS	Mesoaxial polydactyly Hypothalamic hamartoma
GCPS	Preaxial polydactyly	Syndactyly Macrocephaly Hypertelorism Postaxial polydactyly
Sub-PHS		Mesoaxial polydactyly Hypothalamic hamartoma Oligodactyly OR Postaxial polydactyly plus one feature from column C	Bifid epiglottis Imperforate anus Small nails Hypopituitarism Growth hormone deficiency Genital hypoplasia
Sub-GCPS		Preaxial polydactyly Broad thumbs or great toes Syndactyly Macrocephaly Hypertelorism OR Postaxial polydactyly plus one feature from column C	Hypoplasia of the corpus callosum

¹Confirming features were used to place individuals with into sub-PHS or sub-GCPS groups when their only feature from column B was postaxial polydactyly.

Probands were evaluated sequentially for inclusion in the OFD-overlap group, then the PHS or GCPS groups and lastly the sub-PHS or sub-GCPS groups. Probands were placed into the first group where they fulfilled the inclusion criteria. Individuals who fulfilled the criteria for both sub-PHS and sub-GCPS were placed based upon the number of features they demonstrated for each group.