Diastrophic dysplasia manifests with various symptoms, including:
- Short Stature: Individuals affected by diastrophic dysplasia typically have short arms and legs, contributing to overall short stature.
- Joint Pain and Deformities: Early-onset joint pain (osteoarthritis) and joint contractures restrict movement, making walking difficult. These joint issues tend to worsen over time.
- Clubfoot: An inward- and downward-turning foot, known as clubfoot, is a common feature of diastrophic dysplasia.
- Spinal Curvature: Progressive abnormal curvature of the spine may occur in individuals with diastrophic dysplasia.
- Hitchhiker Thumbs: Unusually positioned thumbs, often referred to as hitchhiker thumbs, are observed in individuals with this condition.
- Cleft Palate: Approximately half of infants with diastrophic dysplasia are born with a cleft palate, an opening in the roof of the mouth.
- Ear Swelling: Newborns with diastrophic dysplasia may experience swelling of the external ears, which can lead to thickened and deformed ears.
While diastrophic dysplasia shares similarities with another skeletal disorder called atelosteogenesis type 2, it tends to be less severe. Although some affected infants may experience breathing problems, most individuals with diastrophic dysplasia can expect to live into adulthood.