Zimmerman-Laband syndrome
| Zimmerman-Laband syndrome | |
| OMIM | 135500 |
|---|---|
| DiseasesDB | 34028 |
Overview
Zimmerman-Laband syndrome (ZLS),[1] also known as Laband's Syndrome,[2] is an extremely rare[3] autosomal dominant[4] congenital disorder.
Symptoms
Symptoms include gingival fibromatosis, associated with hypoplasia of the distal phalanges, nail dysplasia, joint hypermobility, and sometimes hepatosplenomegaly.[5] 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.[6][7] Both males and females are equally affected. Gingival fibromatosis is usually present at birth or appears short after.[7][2] The term Zimmermann-Laband was coined by Carl Jacob Witkop in 1971.[7]
Inheritance
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.
References
- ↑ Zimmermann-Laband Syndrome - What does ZLS stand for? Acronyms and abbreviations by the Free Online Dictionary
- ↑ 2.0 2.1 Laband Syndrome
- ↑ Template:RareDiseases
- ↑ Holzhausen, M; Gonçalves, D; Corrêa, Fde, O; Spolidorio, Lc; Rodrigues, Vc; Orrico, Sr (2003). "A case of Zimmermann-Laband syndrome with supernumerary teeth". Journal of periodontology. 74 (8): 1225–30. doi:10.1902/jop.2003.74.8.1225. ISSN 0022-3492. PMID 14514238. Unknown parameter
|month=ignored (help) - ↑ Atabek ME, Pirgon O, Sert A, Toy H (2005). "Zimmermann-Laband syndrome in an infant with an atypical histologic finding". Pediatr. Dev. Pathol. 8 (6): 654–7. doi:10.1007/s10024-005-0048-1. PMID 16267629.
- ↑ Cat.Inist
- ↑ 7.0 7.1 7.2 Template:WhoNamedIt
Template:Phakomatoses and other congenital malformations not elsewhere classified