Zimmermann–Laband syndrome
| Zimmermann-Laband syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 135500 |
| Patient UK | Zimmermann–Laband syndrome |
Zimmermann–Laband syndrome (ZLS),[1] also known as Laband Zimmermann syndrome,[2] and Laband's Syndrome,[3] is an extremely rare[4] autosomal dominant[5] congenital disorder.
Contents
Symptoms
Symptoms include gingival fibromatosis, associated with hypoplasia of the distal phalanges, nail dysplasia, joint hypermobility, and sometimes hepatosplenomegaly.[6] 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.[7][8] Both males and females are equally affected. Gingival fibromatosis is usually present at birth or appears short after.[3][8] The term Zimmermann-Laband was coined by Carl Jacob Witkop in 1971.[8]
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.
See also
References
- ↑ Zimmermann-Laband Syndrome - What does ZLS stand for? Acronyms and abbreviations by the Free Online Dictionary
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ 3.0 3.1 Laband Syndrome
- ↑ Zimmerman Laband syndrome; Fibromatosis gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly at NIH's Office of Rare Diseases
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Cat.Inist
- ↑ 8.0 8.1 8.2 synd/3783 at Who Named It?
