Other congenital malformation syndromes with other skeletal changes Save
ICD-10 code: Q87.5
Chapter: Congenital malformations, deformations and chromosomal abnormalities
Other Congenital Malformation Syndromes with Other Skeletal Changes
Congenital malformation syndromes are a group of disorders that occur during fetal development and lead to abnormalities in the structure or function of the body. These syndromes may affect different parts of the body, including the skeletal system.
In this article, we will discuss some of the other congenital malformation syndromes that have skeletal changes, besides the well-known conditions like Down syndrome and Marfan syndrome.
- Alagille syndrome: This syndrome affects multiple organs, including the liver, heart, and skeleton. The skeletal changes in Alagille syndrome include butterfly-shaped vertebrae, short stature, and abnormal rib development.
- Cleidocranial dysplasia: This condition affects the development of bones and teeth. People with cleidocranial dysplasia have abnormal collarbones and skull bones, which can affect their ability to move their arms and neck. They may also have delayed eruption or missing teeth.
- Craniofacial microsomia: This syndrome affects the development of the face and skull. People with craniofacial microsomia may have an underdeveloped jaw, ear, or cheekbone on one side of their face. They may also have a smaller-than-normal skull or facial asymmetry.
- Diastrophic dysplasia: This condition affects the development of bones and cartilage. People with diastrophic dysplasia have short stature, abnormal spine curvature, and joint deformities. They may also have clubfoot or cleft palate.
- Metaphyseal chondrodysplasia: This syndrome affects the growth of long bones in the arms and legs. People with metaphyseal chondrodysplasia may have short stature, bowed legs, and enlarged joints.
If you or a loved one has a congenital malformation syndrome with skeletal changes, it is essential to work with a healthcare team that specializes in the condition. Treatment may involve surgery, physical therapy, or other interventions to improve mobility and quality of life.
Overall, while these conditions may present challenges, with proper management and support, people with congenital malformation syndromes can lead fulfilling lives.