Acromicric dysplasia

Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features. Newborns with acromicric dysplasia are of normal size, but slow growth over time results in short stature. The average height of adults ...1

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Symptoms of Acromicric dysplasia

Symptoms: Acromicric dysplasia usually first becomes apparent during late infancy. It is mainly characterized by abnormally short hands and feet, short stature, and mild facial abnormalities. Certain bones in the hands, fingers, feet and toes are abnormally short and stubby ...2

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Types of Acromicric dysplasia

Some types of this condition may include:3 Types of Acromicric dysplasia:

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Genetics of Acromicric dysplasia

Genetic Changes: Acromicric dysplasia is caused by mutations in the FBN1 gene, which provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of ...4

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Treatments: Acromicric dysplasia

Treatment: Treatment of acromicric dysplasia focuses on the specific signs and symptoms that are present in each individual; it is generally symptomatic and supportive.[3] The prognosis for affected individuals is good; no major complications appear to occur in the ...5

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)6 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ acromicric-dysplasia
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 7/ acromicric-dysplasia
  3. Source: NCI Thesaurus
  4. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ acromicric-dysplasia
  5. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 7/ acromicric-dysplasia
  6. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ acromicric-dysplasia

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