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.
^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
acromicric, dysplasia, extremely, rare, inherited, disorder, characterized, abnormally, short, hands, feet, growth, retardation, delayed, bone, maturation, leading, short, stature, most, cases, have, occurred, randomly, apparent, reason, sporadically, however,. 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 dysplasiaOther namesAcromicric 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 EditThis 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 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 134797External links EditGeneReview NIH UW entry on Geleophysic Dysplasia Retrieved from https en wikipedia org w index php title Acromicric dysplasia amp oldid 1111748733, wikipedia, wiki, book, books, library,
