What is Spondyloepimetaphyseal Dysplasia (SEMD), Strudwick Type?
- A form of dwarfism (skeletal dysplasia)
- Affects bone growth
- Linked to Chromosome 12q13
- Can be caused by a mutation in the COL2A1 gene
- Can be inherited from parents who also have SEMD
- Occurrence is very rare and it is thought it could be less than 1 in every 1,000,000
- Due to the rarity of SEMD the final average height of an adult can not be certain
Diagnosis of Spondyloepimetaphyseal Dysplasia, Strudwick Type
- Before birth by:
- Prenatal ultrasound scanning
- Testing methods e.g. Chronic villus sampling and DNA linkage studies or amniocentesis
- After birth by:
- Observation of common physical characteristics
- X-rays (which can distinguish between the more common form of dwarfism SEDc)
What are the common characteristics of Spondyloepimetaphyseal Dysplasia, Strudwick Type?
*many common characteristics are similar to the that of the more common form of dwarfism SEDc*
- Short stature
- Short trunk
- Shortened limbs
- Usually have average sized hands and feet
- Progressive abnormal curvature of the spine (kyphoscoliosis and lordosis) (differing severity)
- Flattened vertebrae (platyspondyly) (differing severity)
- Abnormaility of the hip joint that causes the upper leg bones to turn inward (coxa vara) (differing severity)
- Protusion of chest bone
- Foot deformity (club foot)
- Mild facial feature differences
- Cleft palate (differing severity)
- Severe nearsightedness (high myopia)
*Please be aware, not all of the characteristics may be present*
Other information about Spondyloepimetaphyseal Dysplasia, Strudwick Type
- Life expectancy is not affected
- Intelligence is not affected
- Can affect boys and girls equally
Genetics of Spondyloepimetaphyseal Dysplasia, Strudwick Type
- If there is no history of Spondyloepimetaphyseal Dysplasia in the family, Spondyloepimetaphyseal Dysplasia can be passed on by one parent (dominant) as the result of a mutation
Additional reading about Spondyloepimetaphyseal Dysplasia, Strudwick Type
- Genetics Home Reference - Spondyloepimetaphyseal Dysplasia
- OMIM
- Orpha.Net
- Kids Health
- Understanding Dwarfism
*Little People UK are not responsible for external website*
