A controversial form of Cleft Lip/Palate-Ectodermal Dysplasia Syndrome combining anhidrosis, hypotrichosis, microdontia, cleft lip and palate, hand and foot deformity, and mental retardation.
Very rare. Less than 10 patients described.
Potentially related to mutations in the PVRL1 gene on chromosome 11q23.3, which plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells.
Features involve head (oval face, cleft lip and palate, anteverted ears, hypodontia), skin (short sparse “kinky” hair, sparse eyebrows, desquamation of the skin of the face, palmar and plantar hyperkeratosis, hypotrichosis or anhidrosis, hypoplastic dermatoglyphic, onychodysplasia, popliteal and perineal pterygium), and skeleton (syndactyly, aplasia or hypoplasia of the thumbs). Other features include mental retardation, genitourinary anomaly, deafness, and accessory nipple. Affected adults have normal daily function and expectancy. Early death in the neonatal or childhood period has been reported; however, the cause of death is unknown.
Excessive environmental heat and the administration of cholinergic drugs are best avoided because of the anhydrosis.
Other condition to be considered
Zlotogora-Ogur Syndrome (Cleft Lip/Palate-Ectodermal Dysplasia Syndrome; Ectodermal Dysplasia Cleft Lip/Palate Mental Retardation Syndactyly Syndrome): Characterized by the presence of bilateral cleft lip/palate ectodermal dysplasia, sparse scalp hair, malformed protruding ears, and partial syndactyly of the fingers and toes. Mental retardation, pili torti, and renal abnormalities have been reported. No aplasia or hypoplasia of thumb or popliteal/perineal pterygium.
R: Ectodermal dysplasia. Br J Plast Surg
et al: Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nature Genet
J: Syndactyly, ectodermal dysplasia and cleft lip/palate. J Med Genet