acromesomelic dysplasia

noun

: an extremely rare genetic disorder of bone and cartilage development that is a form of dwarfism

Note: A person affected with acromesomelic dysplasia has a trunk of normal proportions but extremely short forearms and lower legs as well as small hands and feet. This disorder is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.

Acromesomelic dysplasia is a nonlethal short stature and short limbs dysplasia … Phillipe Jeanty et al., in Diagnostic Imaging of Fetal Anomalies

called also acromesomelic dwarfism

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Cite this Entry

“Acromesomelic dysplasia.” Merriam-Webster.com Medical Dictionary, Merriam-Webster, https://www.merriam-webster.com/medical/acromesomelic%20dysplasia. Accessed 24 Jan. 2025.

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