Rosseli-Gulienetti Syndrome

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.

Autosomal recessive. Very rare.

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 anhydrosis, 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.

Zlotogora-Ogur Syndrome (Cleft Lip/Palate-Ecto-dermal 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.