Dwarfism With Stiff Joints And Ocular Abnormalities

Clinical Features

The features are dwarfism with disproportionately short legs (height 54 to 57 inches), reduced joint mobility, and ocular abnormalities (hyperopia, glaucoma, cataract, retinal detachment) (Moore and Federman, 1965). Seven members of 3 generations were affected in the 1 reported family, with male-to-male transmission.

Winter et al. (1989) described 4 unrelated patients with short stature, stiffness of the joints, short fingers, inability to make a fist, and thickened skin on the forearms. No evidence of a lysosomal storage disorder could be demonstrated. Radiographs showed nonspecific changes with a delayed carpal bone age. Winter et al. (1989) raised the possibility that acromicric dysplasia (102370) may be the same as the Moore-Federman syndrome. They pointed out that the Moore-Federman syndrome had the distinction of being 'dropped' from the third edition of Smith's 'Recognizable Patterns of Human Malformation' (Smith, 1982) because there had been no further convincing case reports since the original description.

Inheritance

Male-to-male transmission in the family reported by Moore and Federman (1965) suggested autosomal dominant inheritance.