The genetic locus for<unk>  was localized to chromosome 1 in 1999. The disorder is inherited in an autosomal dominant manner and is due to mutation of the IRF6 gene. Most reported cases are sporadic; advanced parental age is found in a number of these cases, suggesting new mutations. The term<unk>  has also been used for two rare autosomal recessively inherited conditions: Lethal<unk>  and<unk>  with Ectodermal Dysplasia. Although both conditions feature a cleft lip/palate, syngnathia, and<unk><unk> , they are clinically distinguishable from the autosomal dominant case. Lethal<unk>  is differentiated by microcephaly, corneal aplasia, ectropion, bony fusions, hypoplastic nose and absent thumbs, while<unk>  with Ectodermal Dysplasia is differentiated by woolly hair, brittle nails, ectodermal anomalies, and fissure of the sacral vertebrae. Relationship to Van der Woude<unk>  Van der Woude<unk>  (VDWS) and<unk>  <unk>  are allelic variants of the same condition; that is, they are caused by different mutations of the same gene.<unk>  includes all the features of VDWS, plus<unk><unk> , syngnathia, distinct toe/nail abnormality, syndactyly, and genito-urinary malformations.
Popliteal pterygium syndrome
Tar melanosis
Linguatulosis
Veinoplus
Capillaritis
Haff disease
Idiopathic craniofacial erythema
Palmoplantar keratoderma