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Cover image: Warwick Davis in “Harry Potter and the Goblet of Fire” | Warner Bros | Warwick's dwarfism has been attributed to spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia congenita (SED or SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing.
- Adult height: 0.9m/35″ to 1.4m/55″
Aetiology
COL2A1 gene mutation
- Impaired Type II Collagen formation:
- Required for:
- Normal development of bones and other connective tissues
- Found in cartilage and vitreous (eye)
- Required for:
Clinical features
Short-stature
- Very short trunk and neck and shortened limbs.
- Average-sized hands and feet
- Characterized by a normal spinal column length relative to the femur bone.
Spinal deformities:
- Curvature of the spine (kyphoscoliosis and lordosis)
- Progresses during childhood and can cause problems with breathing
- Changes in the spinal bones (vertebrae) in the neck may also increase the risk of spinal cord damage.
- Platyspondyly (flattened vertebrae)
Other deformities:
- Coxa vara (hip joint deformity in which the upper leg bones turn inward)
- Clubfoot (inward- and downward-turning foot)
- Decreased joint mobility and arthritis often develop early in life.
Associated conditions:
- Cleft palate
- High myopia (severe nearsightedness)
- Retinal detachment
- Mild-to-moderate hearing loss

Diagnosis
Imaging
