acromesomelia

acromesomelic dwarfism

a form of short-limb dwarfism characterized by pug nose and shortening of the upper and lower extremities; particularly striking in the distal portion of these extremities (that is, forearm, fingers of upper extremity and the lower leg and toes of the lower extremity). Autosomal recessive inheritance.
Farlex Partner Medical Dictionary © Farlex 2012

ac·ro·mes·o·me·li·a

(ak'rō-mez'ō-mē'lē-ă)
A form of dwarfism in which shortening is striking in the most distal segment of the limbs; autosomal recessive inheritance.
Synonym(s): acromelia.
[acro- + G. melos, limb, + ia, condition]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
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In the present case, acromesomelia (relative shortening of distal and middle segments of the limbs), short stature, postaxial polydactyly of hands, hypoplastic and deformed nails and toes, and multiple frenula of lower lip were present.