Rare Genetic Diseases: Zimmermann-Laband Syndrome

Only 44 patients were diagnosed with Zimmermann-Laband syndrome to date. The disorder is not life-threatening and is characterized by gingival fibromatosis, coarse facial appearance, and the absence or hypoplasia of nails or terminal phalanges of hands and feet.

The coarse facial appearance includes a bulbous soft nose, thickened lips, floppy ears, and fibromatosis (groups of soft tissue tumours). The majority of the patients also suffer from hyperextensibility of joints, hepatosplenomegaly (swelling of liver and spleen), and hearing loss. Some of the individuals also suffer from a mild intellectual deficit.

Due to the complicated mechanism of the disease, the exact genetic mutation is not known. However, it is known that the disease is inherited in an autosomal dominant pattern. This means that the defective gene is located on an autosome and only one copy of the faulty gene is sufficient to cause the disorder. Furthermore, based on the symptoms of the disease, it is estimated that the mutation occurs in a potassium channel gene.

There is no cure for the disease, nonetheless, surgery can relieve the symptoms. For example, the hyperplasic fibrous tissue and appropriate orthodontic treatment can improve the esthetic appearance.