Acromicric dysplasia explained

Acromicric dysplasia
Synonyms:	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]

External links

• GeneReview/NIH/UW entry on Geleophysic Dysplasia

Notes and References

1. Web site: Acromicric dysplasia Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . rarediseases.info.nih.gov . 18 March 2019.
2. Web site: OMIM Entry - # 102370 - ACROMICRIC DYSPLASIA; ACMICD. omim.org. en-us. 2017-07-01.
3. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Acromicric dysplasia . 2022-09-22 . www.orpha.net . en.
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. Web site: Entrez Gene . FBN1 fibrillin 1.