What is Metaphyseal Chordrodysplasia Schmid Type?
- A form of dwarfism (skeletal dysplasia)
- Prevalence unknown
- Caused by mutation in the COL10A1 gene
Diagnosis of Metaphyseal Chordrodysplasia Schmid Type
- After birth by:
- X rays
- Observation of common physical characteristics
What are common characteristics of Metaphyseal Chordrodysplasia Schmid Type?
- Short limbed dwarfism
- Bowed legs (genu varum)
- Flaring of bones of the lowe rib cage
- lumbar lordosis
- hip deformities (coxa vara)
- Waddling gait
- Arthritis later in life
*Please be aware, not all of the characteristics may be present*
Other information about Metaphyseal Chordrodysplasia Schmid Type
- Intelligence is not affected
- Life expectancy is not affected
- Affects males and females equally
Genetics of Metaphyseal Chordrodysplasia Schmid Type
- Autosomal dominant pattern
Additional reading about Metaphyseal Chordrodysplasia Schmid Type
- National Organisation for Rare Disorders - Metaphyseal Chordrodysplasia Schmid Type
- LPA Online - Metaphyseal Chordrodysplasia Schmid Type
- OMIM
- WebMD
- Kids Health
- Understanding Dwarfism
*Little People UK are not responsible for external website*