Cenani–Lenz Syndrome

Abstract

Cenani–Lenz syndrome is a complex limb malformation featuring synostoses of the metacarpals and phalanges with oligodactyly. Radiography shows complete disorganization of the metacarpals and phalanges and partial absence of the carpals. Variable findings include shortening of the ulna and radius with fusion. In the most severe cases, this results in a single cuboid-shaped bone replacing the radius and ulna. The feet are less severely affected but also show syndactyly. Abnormalities of the spine with hemivertebrae and rib fusions occur. A specific facial appearance has been reported, consisting of a high, prominent forehead; hypertelorism; downward slanting palpebral fissures; a short nose; a short, prominent philtrum; deep-set eyes; low-set ears; retrognathia; and malar hypoplasia. Renal aplasia/hypoplasia has been reported in approximately 50 % of patients.