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
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.
Rosseli D, Gulienetti R: Ectodermal dysplasia. Br J Plast Surg 14:190, 1961.
Zlotogora J: Syndactyly, ectodermal dysplasia and cleft lip/palate. J Med Genet