Zlotogora syndrome




Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.


Zlotogora-Ogur syndrome is a congenital disorder characterized by:

  • Sparse and twisted hair (pili torti)
  • Absent or sparse eyebrows
  • Hypohidrosis
  • Dry skin
  • Palmoplantar keratoderma
  • Abnormal teeth (delayed eruption, microdontia/hypodontia, and anodontia in adults)
  • Cutaneous syndactyly (fingers and toes) and transverse crease on the palms
  • Facial dysmorphism (protruding and malformed ears, micrognathia, bilateral cleft lip and palate)


Additional features may be observed, including

  • intellectual disability
  • deafness
  • hypoplastic lacrimal puncta
  • nipple anomalies 
  • genitourinary abnormalities (hypoplastic scrotum and presence of the testes in the inguinal canal)
  • lumbar lordosis 


This syndrome is genetically transmitted through a recessive autosomal mode (it is necessary that both parents present the abnormality so that the descendant is affected).

Zlotogora-Ogur syndrome is caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Although the mechanism underlying the physiopathology of Zlotogora-Ogur syndrome is still unknown, it has been proposed that nectin-1 is a cell-cell adhesion molecule that is preferentially expressed in keratinocytes and that mutations in PVRL1 may abrogate NAP (nectin, afadin, ponsin)-dependent cell-cell adhesion.


The treatment of Zlotogora syndrome is directed toward the specific symptoms that are apparent in each affected individual.


See Research Publications