Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome

Abstract

We describe 27 individuals of 7 families related to each other with high probability who showed manifestations of ectodermal dysplasia and other anomalies affecting females as severely as males with variable expressivity. All parents were normal. These families were detected in a relatively isolated and inbred population with very small neighbouring communities from a Caribbean Sea island, Margarita Island, in Northeastern Venezuela (Nueva Esparta State). The clinical picture common to all patients could not be classified within the heterogeneous group of known ectodermal dysplasias and the published cases do not resemble our patients. We believe that this condition constitutes a newly recognized autosomal recessive dysplasia/malformation syndrome of ectodermal dysplasia.

Tooth Agenesis: from Molecular Genetics to Molecular Dentistry

“…NECTIN-2 (PVRL1) codes for a cell adhesion molecule that is expressed in mouse tooth buds. Persons with ZlotogoraOgur syndrome (Zlotogora, 1994) or the Margarita Island form of ectodermal dysplasia (Bustos et al, 1991) caused by a PVRL1 mutation have syndactyly, cleft lip/palate, nail and hair dysplasia, and hypodontia. Hypodontia affects mainly the upper lateral incisors, and additionally the sizes and shapes of tooth crowns differ (Bustos et al, 1991).…”

Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color

“…Coarse, dry, sparse, and extremely slowly growing hair is a characteristic feature of RHS, but it is also found in other ectodermal dysplasia with clefting syndromes such as EEC, 30-43 AEC, 5,45,53 and others. 44,52,[54][55][56][57] Hair color changes Of the reviewed RHS cases, hair color characteristics were mentioned in 16 cases. These were described as white, 16 hypopigmented, 8,25 light colored, 6,24,58 fair, 22 blondish white, 16 blondish, 16,17 ginger, 51 reddish, 16,26 and black.…”

PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses

“…Autosomal recessive CL/P-ectodermal dysplasia syndrome (CLPED1, MIM 225000), previously called Margarita Island ectodermal dysplasia (MIM 225060), is characterized by CL/P, dental anomalies, hand anomalies, hidrotic ectodermal dysplasia, and occasionally mental retardation (Bustos et al 1991). Suzuki et al (2000) identified a nonsense mutation (G546A; W185X), a deletion (546delG), and a duplication (959dupG) of PVRL1, the poliovirus receptor like-1 gene at 11q23, in CLPED1 families from Margarita Island in north Venezuela, in patients from Israel, and patients from Brazil, respectively.…”