Rosseli-Gulienetti Syndrome

At a glance

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.

Incidence

Very rare. Less than 10 patients described.

Genetic inheritance

Autosomal recessive.

Pathophysiology

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.

Clinical aspects

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.

Anesthetic considerations

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.

References