Zlotogora syndrome

Synonyms

Zlogotora-Ogur Syndrome,

Overview

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.

Symptoms

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 

Causes

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.

Treatment

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

Resources

See Research Publications