The molecular Location of the PORCN gene on the X chromosome: base pairs 48,367,346 to 48,379,201<unk>  has been associated with PORCN gene mutations on the X chromosome. 90% of the individuals who are affected with the syndrome are female: the commonly accepted, though unconfirmed, explanation for this is that the non-mosaic hemizygous males are not viable. The differential diagnosis of<unk>  (Goltz) syndrome includes autosomal recessive Setleis syndrome due to TWIST2 gene mutations. It associated with morning glory anomaly, polymicrogyria, incontinentia pigmenti, oculocerebrocutaneous syndrome, Rothmund-Thomson syndrome and microphthalmia with linear skin defects (also known as MLS) syndrome because they are all caused by deletions or point mutations in the HCCS gene.
Focal dermal hypoplasia
Focal facial dermal dysplasia
Brachyphalangy
Persistent tunica vasculosa lentis
Congenital dermal sinus
Microcystic lymphatic malformation
Atrophia maculosa varioliformis cutis
Auricular hypertrichosis