Glotz gorlin syndrome
Focal dermal hypoplasia (FDH) is an uncommon genetic disorder affecting tissues of ectodermal and mesodermal origin. It is also known as Goltz syndrome or Goltz-Gorlin syndrome. The mnemonic 🗝️"FOCAL" 🗝️ can be used to remember some of the key features of this syndrome: Female predominance ♀️ Osteopathia striata(Voorhoeve disease, is a rare, benign sclerosing bone dysplasia) 🍖 Coloboma 👀 Absent ectoderm, mesoderm and neuroderm-derived elements 🚫 Lobster claw deformity 🦀 The cause? 🤔 A genetic defect associated with at least 80 different mutations in the PORCN gene of the X chromosome (Xp11.23) is responsible for this syndrome. IMPORTANT NOTE : 🧐 Focal dermal hypoplasia should not to be confused with Gorlin syndrome or Gorlin-Goltz syndrome, which is the nevoid basal cell carcinoma syndrome that is a totally different condition.
Wow, were they the same people who discovered them, or some coincidence?
The name Gorlin syndrome refers to the American oral pathologist and human geneticist Robert J. Gorlin (1923–2006).[2]The American dermatologist Robert W. Goltz (1923–2014)[3] was his co-author, which is the basis for the term 'Gorlin-Goltz syndrome'. Wikipedia
