Zimmerman-Laband syndrome is a rare congenital syndrome, characterised primarily by gingival hypertrophy and skeletal abnormalities.
The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with 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.
- mental retardation (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