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] |
The disorder is different (but similar to) from other syndromic entities such as geleophysic dysplasia, Weill-Marchesani syndrome, and Myhre syndrome.[3]
Genetics edit
This condition has been associated with mutations in the Fibrillin 1 (FBN1) gene.[4]
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.[5][6]
References edit
- ^ "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.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acromicric dysplasia". www.orpha.net. Retrieved 2022-09-22.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ Wang T, Yang Y, Dong Q, Zhu H, Liu Y (2020) Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review. Mol Genet Genomic Med
- ^ "FBN1 fibrillin 1". Entrez Gene.
- ^ Online Mendelian Inheritance in Man (OMIM): FIBRILLIN 1; FBN1 - 134797