Diseases title

Zlotogora-Ogur syndrome )

Lab mat
Orpha Number: 3253
Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-syndactyly-pili torti, CLPED1, Syndactyly-ectodermal dysplasia-cleft/lip palate, Zlotogora-Zilberman-Tenenbaum 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 disabilityThe prevalence is unknown but to date, less than 50 cases have been described in the literature. The disorder is frequent in the Margarita Island due to a founder effect.Zlotogora-Ogur syndrome is a congenital disorder characterized by sparse and twisted hair (pili torti; see this term) and absent or sparse eyebrows, hypohidrosis, dry skin, palmoplantar keratoderma, abnormal teeth (delayed eruption, microdontia/hypodontia, and anodontia in adults (see these terms)), facial dysmophism (protruding and malformed ears, micrognathia, bilateral cleft lip and palate), cutaneous syndactyly (fingers and toes) and transverse crease on the palms. Onychodystrophy may be present. Additional features including intellectual disability, deafness, hypoplastic lacrimal puncta, nipple anomalies, genitourinary abnormalities (hypoplastic scrotum and presence of the testes in the inguinal canal), and lumbar lordosis may be observed. Zlotogora-Ogur syndrome and Margarita Island ectodermal dysplasia are the same entity.Zlotogora-Ogur syndrome is caused by mutations in the gene PVRL1 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 mutation in PVRL1 may abrogate NAP (nectin, afadin, ponsin)-dependent cell-cell adhesion. Transmission is autosomal recessive.
source: Orphanet