Zimmerman-Laband syndrome is a rare congenital syndrome, characterized primarily by gingival hypertrophy and skeletal abnormalities.
The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with a high mutation rate and rare instances of germinal mosaicism currently seem the most likely inheritance pattern.
- gingival hypertrophy
- bulbous nose and thick ears
- abnormal hands
- clubbed fingers and toes
- nail hypoplasia/dysplasia
- hypoplasia of the terminal phalanges of the hands and feet.
- intellectual disability (variable severity)
- other skeletal abnormalities
- skeletal abnormalities
- hypoplasia of the terminal phalanges of the hands and feet
- possible limb asymmetry
- possible kyphosis
- possible lumbar spondylodysplasia
- possible mandibular hypertrophy
- 1. Castori M, Valiante M, Pascolini G et-al. Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. Eur J Med Genet. 2013;56 (10): 570-6. doi:10.1016/j.ejmg.2013.08.004 - Pubmed citation
- 2. Taybi H, Lachman R. Radiology of syndromes, metabolic disorders, and skeletal dysplasias. Mosby. ISBN:0815187092. Read it at Google Books - Find it at Amazon