What is Metaphyseal Chondrodysplasia McKusic Type (Cartilage-hair Hypoplasia)?
- Disorder of bone growth resulting in dwarfism (Skeletal Dysplasia)
- Caused by mutations in the RMRP gene
- Occurrence is very rare however is thought to be 1 in 20,000 in Finland
- Average height of an adult is between 3 feet 4 inches and 5 feet
Diagnosis of Metaphyseal Chondrodysplasia McKusic Type (Cartilage-hair Hypoplasia)?
- Before birth
- Possibly via prenatal ultrasound due to short extremities
- Genetic sampling if expected
- After birth
- X-ray findings
- Observation of common physical characteristics
- Confirmation by DNA testing of the RMRP gene via a blood test
What are the common characteristics of Metaphyseal Chondrodysplasia McKusic Type (Cartilage-hair Hypoplasia)?
- Short stature
- Shortened limbs
- Joint hypermobility
- Often fine silky hair
- May have immunodeficiency
- May have anemia
- May have gastrointestinal dysfunction
- May have flaring of the lower chest
- May have bowed legs
*Please be aware, not all of the characteristics may be present*
Other information about Metaphyseal Chondrodysplasia McKusic Type (Cartilage-hair Hypoplasia)?
- Life expectancy is not affected
- Intelligence is not affected
- increased risk for malignancy
- Can affect boys and girls equally
Genetics of Metaphyseal Chondrodysplasia McKusic Type (Cartilage-hair Hypoplasia)?
- Passed on by both parents (recessive)
Additional reading about Metaphyseal Chondrodysplasia McKusic Type (Cartilage-hair Hypoplasia)
- Genetics Home Reference - Cartilage-hair Hypoplasia
- OMIM
- Orpha.Net
- About Kids Health
- LPA Online - Cartilage-hair Hypoplasia
- Kids Health
- Understanding Dwarfism
