Gene mutations associated with cleft lip/cleft palate in humansa
| Gene | Condition |
|---|---|
| DHCR7 | Smith-Lemli-Opitz syndrome |
| EFNB1 | Craniofrontonasal syndrome |
| FGFR1 | Kallmann syndrome |
| IRF6 | van der Woude syndrome |
| OFD1 | Oral-facial-digital syndrome type I |
| MID1 | Opitz syndrome |
| MSX1 | Cleft lip/palate with hypodontia |
| PVRL1 | Margarita Island ectodermal dysplasia (part of cleft lip/palate-ectodermal dysplasia syndrome) |
| TP73 L (p63) | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate, ankyloblepharon-ectodermal dysplasia-clefting syndrome |
| SIX3 | HPE2 |
| TGIF | HPE4 |
| PTCH1 | HPE7 |
| GLI2 | HPE-like features |
Note:—HPE indicates holoprosencephaly.
↵a Table modified from Rice DP. Craniofacial anomalies: from development to molecular pathogenesis. Curr Mol Med 2005;5:699–722, Table 1, © Bentham Science Publishers.16