Zimmermann–Laband syndrome
Zimmermann–Laband syndrome, is an extremely rare autosomal dominant congenital disorder.Symptoms
Symptoms include gingival fibromatosis, associated with hypoplasia of the distal phalanges, nail dysplasia, joint hypermobility, and sometimes hepatosplenomegaly. The nose and pinnae are usually large and poorly developed, which gives the individuals with the syndrome abnormal facial characteristics. Mental retardation may also occur. Both males and females are equally affected. Gingival fibromatosis is usually present at birth or appears short after. The term Zimmermann–Laband was coined by Carl Jacob Witkop in 1971.Genetics
Zimmerman–Laband syndrome is inherited in an autosomal dominant pattern. This means the defective gene is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
The condition is caused by mutations in a potassium channel gene – KCNH1.Diagnosis
Treatment
