Acromicric dysplasia

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Acromicric dysplasia
Other namesAcromicric 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.

Contents

The disorder is different from, but similar to, 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]

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<span class="mw-page-title-main">Fibrillin-1</span> Protein found in humans

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<span class="mw-page-title-main">Parastremmatic dwarfism</span> Medical condition

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<span class="mw-page-title-main">Severe achondroplasia with developmental delay and acanthosis nigricans</span> Medical condition

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder. This disorder is one that affects bone growth and is characterized by skeletal, brain, and skin abnormalities. Those affected by the disorder are severely short in height and commonly possess shorter arms and legs. In addition, the bones of the legs are often bowed and the affected have smaller chests with shorter rib bones, along with curved collarbones. Other symptoms of the disorder include broad fingers and extra folds of skin on the arms and legs. Developmentally, many individuals who suffer from the disorder show a higher level in delays and disability. Seizures are also common due to structural abnormalities of the brain. Those affected may also suffer with apnea, the slowing or loss of breath for short periods of time.

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.{{cite web}}: CS1 maint: numeric names: authors list (link)
  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