Acromicric dysplasia

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 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

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
  1. "Acromicric dysplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 18 March 2019.
  2. "OMIM Entry - # 102370 - ACROMICRIC DYSPLASIA; ACMICD". omim.org. Retrieved 2017-07-01.
  3. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acromicric dysplasia". www.orpha.net. Retrieved 2022-09-22.
  4. 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
  5. "FBN1 fibrillin 1". Entrez Gene.
  6. Online Mendelian Inheritance in Man (OMIM): FIBRILLIN 1; FBN1 - 134797
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.