What is Spondyloepiphyseal Dysplasia, Congenita (SEDc)?
- A form of dwarfism (skeletal dysplasia)
- Adult height ranges from 3 feet to just over 4 feet
- Caused by a mutation in the COL2A1 gene
- Thought to occur in approximately 1 in every 100,000
Diagnosis of Spondyloepiphyseal Dysplasia, Congenita
- Before birth by:
- Ultrasound scanning
- After birth by:
- Observation of common physical characteristics
- X-rays
What are the common characteristics of Spondyloepiphyseal Dysplasia, Congenita?
- Short stature from birth
- Very short trunk and neck
- Shortened limbs
- Hands and feet are usually average-sized
- Progressive abnormal curvature of the spine (kyphoscoliosis and lordosis) (differing severity)
- Instability of the spinal bones (vertebrae)
- Flattened vertebrae (platyspondyly) (differing severity)
- Abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara) (differing severity)
- A broad, barrel-shaped chest
- Foot deformity (Clubfoot) (differing severity)
- Arthritis and decreased joint mobility could develop early in life (differing severity)
- Mild changes in their facial features (differing severity)
- Cleft palate (differing severity)
- Severe nearsightedness (high myopia) (differing severity)
- Hearing loss (differing severity)
*Please be aware, not all of the characteristics may be present*
Other information about Spondyloepiphyseal Dysplasia, Congenita
- Life expectancy is not affected
- Intelligence is not affected
- Can affect boys and girls equally
Genetics of Spondyloepiphyseal Dysplasia, Congenita
- If there is no history of Spondyloepiphyseal Dysplasia congenita in the family, Spondyloepiphyseal Dysplasia congenita can be passed on by one parent (dominant) as the result of a mutation
- If one parent has Spondyloepiphyseal Dysplasia congenita, there is a 50% chance Spondyloepiphyseal Dysplasia congenita can be passed on to children