Ackerman et al described the Pyramidal Molar, Glaucoma, Unusual Upper Lip Syndrome based on its phenotypic features. It is classified under ectodermal dysplasia by Orpha.net.
Inheritance: autosomal recessive
Clinical features:
(1) pyramidal and fused molar roots with taurodontism (single canal)
(2) juvenile glaucoma
(3) full upper lip without Cupid's bow
(4) wide philtrum
(5) hypotrichosis
(6) syndactyly
(7) clinodactyly of the fifth finger
(8) increased pigmentation of finger joints
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