Medicine:Acromicric dysplasia
| Acromicric dysplasia | |
|---|---|
| Other names | Acromicric skeletal dysplasia [1] |
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.
The disorder is different (but similar to) from other syndromic entities such as geleophysic dysplasia, Weill-Marchesani syndrome, and Myhre syndrome.[3]
Genetics
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
- ↑ "Acromicric dysplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/7/index. Retrieved 18 March 2019.
- ↑ "OMIM Entry - # 102370 - ACROMICRIC DYSPLASIA; ACMICD" (in en-us). https://omim.org/entry/102370.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acromicric dysplasia" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=969.
- ↑ 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. https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2200.
- ↑ Online Mendelian Inheritance in Man (OMIM) FIBRILLIN 1; FBN1 -134797
External links
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