SEMD with Joint Laxity is characterized by short stature, mental retardation, joint and
ligamentous laxity with dislocations (e.g., hips, radial heads).
Kyphoscoliosis is already present at birth, may progress rapidly and lead to
significant cardiopulmonary changes (cor pulmonale) and even paraplegia. The
face appears oval, often has a long philtrum, and either a high arched palate
or a cleft palate. Congenital cardiac lesions (e.g., atrial and/or
ventricular septal defects) are common. Ocular features include blue
sclerae, myopia, and lens dislocation. This form of SEMD has the highest
incidence in South Africa, where it was also first described.