Skeletal Dysplasia

What Is Skeletal Dysplasia?

Skeletal dysplasias are abnormalities of bones or soft tissues. They may occur at birth, develop later in life, or they may not appear until adulthood. There are different types of skeletal dysplasias: osteogenesis imperfecta (OI), Osteosarcoma, Spondylolisthesis, and Osteochondrosis Complex.

The most common type of skeletal dysplasia is osteogenesis imperfecta (OA). OA affects 1 out of every 200 births. It occurs when there is abnormality in the development of bone cells during embryonic development.

The affected bones usually grow crooked and misshapen, often resulting in them being unable to support their own weight. OA results from defects in one or both sets of chromosomes. Most cases of OA are inherited. However, it is possible for an individual with OA to have no family history of the condition.

Another form of skeletal dysplasia called osteosarcoma develops from abnormal growth of normal bone tissue. It is rarer than OA and more likely to affect children under the age of 15 years old. The disease causes abnormal growth in several parts of the body including the spine, ribs, pelvis, arms and legs.

It is important to detect and treat OA as early as possible.

Skeletal dysplasia is typically diagnosed during infancy or in the first years of life, however, it can be difficult to detect in children who do not have characteristics typical of the condition. Skeletal dysplasia can have a negative impact on musculoskeletal health, resulting in deformities like curvature of the spine, short stature, and joint deformities.

Osteogenesis Imperfecta (OI)

Osteogenesis Imperfecta is also known as “Brittle Bone Disease”. It is the most common type of skeletal dysplasia, with an incidence rate of 1 in 20,000 to 40,000 births. It is inherited in an autosomal dominant manner.

This means that you need to inherit only one defective gene for the condition to show. There are several types of this condition, which differ in symptoms and medical complications. The condition is caused by a defect in type I collagen, which is a normal component of bone. When this collagen is defective, bones do not form or grow properly, and are thus much more prone to fractures. In addition to frequent fractures, the condition can also lead to blue sclera, hearing loss, dentinogenesis imperfecta (teeth problems), and many other medical complications.


This form of skeletal dysplasia is very rare, with an incidence rate of 1 in a million births. It is normally diagnosed in children under the age of 15. It is caused by a mutation in the RAS gene, which can cause over-activity of the cells that produce bone.

This can lead to hyperplasia (abnormal growth) of both bone and cartilage cells. It can cause bone tumors, which are usually malignant. It is also likely to progress into a more serious condition called Osteogenic Sarcoma (OS), which affects bone and soft tissue. If you have this condition, it is very important to go for regular medical check-ups to ensure that the condition is detected and treated as early as possible.

Sources & references used in this article:

Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. by AC Karaplis, A Luz, J Glowacki… – Genes & …, 1994 –

Cranio-skeletal dysplasia by N Hajdu, R Kauntze – The British journal of radiology, 1948 –

Statin treatment rescues FGFR3 skeletal dysplasia phenotypes by A Yamashita, M Morioka, H Kishi, T Kimura, Y Yahara… – Nature, 2014 –

Early treatment of vertical skeletal dysplasia: the hyperdivergent phenotype by WL Sankey, PH Buschang, J English… – American Journal of …, 2000 – Elsevier

Fetal skeletal dysplasia: three-dimensional US—initial experience by KV Garjian, DH Pretorius, NE Budorick, CJ Cantrell… – Radiology, 2000 –

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia … by PM Pollock, MG Gartside, LC Dejeza, MA Powell… – Oncogene, 2007 –

Larsen’s syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies by RJ Latta, CB Graham, J Aase, SM Scham… – The Journal of …, 1971 – Elsevier

Skeletal dysplasia in ancient Egypt by C Kozma – American Journal of Medical Genetics Part A, 2008 – Wiley Online Library