Zimmermann-Laband syndrome


Zimmermann-Laband syndrome

An extremely rare autosomal dominant (OMIM:135500) condition characterised by gingival fibromatosis, hypoplasia of distal phalanges, nail dysplasia, joint hypermobility, hepatosplenomegaly and mental retardation.
Molecular pathology
The defective gene involved in Zimmerman-Laband syndrome has been tentatively localised to chromosome 3p14.3 or 3p21.2.