Micromelia

Micromelia is a congenital abnormality characterized by abnormally short limbs, particularly in the long bones of the arms and legs. This skeletal dysplasia results in disproportionate dwarfism, where the affected individual's limbs are significantly shorter than the trunk. The condition often arises from genetic mutations, developmental disruptions during embryogenesis, or exposure to teratogens. The degree of limb shortening can vary, ranging from mild to severe, and may be present in all limbs or selectively affect certain areas. Diagnosis usually involves prenatal ultrasound, postnatal physical examination, and radiographic imaging to assess skeletal development. Associated health issues can include joint deformities, mobility limitations, and potential respiratory complications depending on the specific underlying cause and severity.

Micromelia meaning with examples

• Doctors observed during the routine prenatal ultrasound that the fetus showed evidence of micromelia. Further investigation and genetic testing confirmed a diagnosis and potential prognosis for the unborn child.
• A young child with micromelia faced challenges in daily life because of the difficulties to adapt due to the limited movement. Physical therapy and assistive devices were used to help the child's limited movement.
• Skeletal X-rays of the newborn revealed characteristic signs of micromelia, including shortened humerus and femur bones. The parents were concerned due to the physical limitations of the limb development
• Genetic counseling offered to the couple provided insights to the inheritance and progression of the micromelia condition with a plan for the management of this condition to the parents and their child.
• Research investigates the molecular mechanisms causing micromelia, with aim of developing effective treatments, targeting genes responsible for bone development, to enhance quality of life.