Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature[2]. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out.
| Acromicric dysplasia | |
|---|---|
| Other names | Acromicric skeletal dysplasia [1] |
According to the disease database, Acromicric dysplasia is synonymous with Geleophysic dysplasia (or Geleophysic Dwarfism) and Focal mucopolysaccharidosis.
Genetics
This condition has been associated with mutations in the Fibrillin 1 (FBN1) gene.
Mutations in this gene have also been associated with stiff skin syndrome, Marfan syndrome and its variant Marfanoid–progeroid–lipodystrophy syndrome, autosomal dominant Weill-Marchesani syndrome, isolated ectopia lentis, MASS phenotype, and Shprintzen-Goldberg syndrome.[3][4]
References
- ^ "Acromicric dysplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 18 March 2019.
- ^ "OMIM Entry - # 102370 - ACROMICRIC DYSPLASIA; ACMICD". omim.org. Retrieved 2017-07-01.
- ^ "FBN1 fibrillin 1". Entrez Gene.
- ^ Online Mendelian Inheritance in Man (OMIM): FIBRILLIN 1; FBN1 - 134797
External links
