These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine.
Osteochondrodysplasias or skeletal dysplasia subtypes can overlap in clinical aspects, therefore plain radiography is absolutely necessary to establish an accurate diagnosis.
[4] Magnetic resonance imaging can provide further diagnostic insights and guide treatment strategies especially in cases of spinal involvement.
As some disorders that cause skeletal dysplasia have treatments available, early diagnosis is particularly important, but may be challenging due to overlapping features and symptoms[5] that may also be common in unaffected children.
The previous clinical findings differentiate between achondroplasia and pseudoachondroplasia in which dwarfism is not recognizable at birth and craniofacial abnormalities are not considered a disease feature.
Pseudoachondroplasia is inherited in an autosomal dominant manner and is caused solely by mutations in the cartilage oligomeric matrix protein COMP gene.
A prompt diagnosis of a skeletal dysplasia in general and Pseudoachondroplasia in specific is still based upon a comprehensive clinical and radiographic correlation.
[4] A detailed radiographic examination of the axial and appendicular skeleton is invaluable for the differential diagnosis of Pseudoachondroplasia.
Additionally, the presence of metaphyseal broadening, cupping and dense line of ossification about the knee can simulate rachitic changes.
In between the clinical spectrum may include individuals with various degrees of disabling skeletal deformities and short stature.
[4] Accordingly, COL1A1/2-related osteogenesis imperfecta has been classified into four sub-types (I, II, III, and IV) built upon the diversity of the radioclinical features.
[11] Cleidocranial dysostosis is a general skeletal condition named for the collarbone (cleido-) and cranium deformities which people with it often have.
[4][20] Juvenile idiopathic arthritis may closely resemble the clinical presentation of some osteochondrodysplasias or genetic skeletal dysplsias.
Type II collagen disorders can result in mild disease or severe which can cause death within weeks of birth.
Guidelines are available to ensure healthcare professional are aware of the conditions and the symptoms of disease to support efficient diagnosis.
[25][26] Even with treatments such as enzyme replacement therapy and stem cell transplantation, people with skeletal dysplasia often require orthopedic surgery and other disease management interventions.