What is X-linked Chondrodysplasia Punctata 1?
- A form of dwarfism (skeletal dysplasia)
- Affect cartilage and bone development
- Caused by alteration in ARSE gene
- Incidence unknown
Diagnosis of X-linked Chondrodysplasia Punctata 1
- After birth
- Genetic testing
- Presence of clinical findings
- Observation of physical characteristics
What are the common characteristics of X-linked Chondrodysplasia Punctata 1?
- Short stature
- Short finger tips and end of toes
- Stippling on x-rays (spots near ends of bones and in cartilage)
- Ankles
- Toes
- Fingers
- Can occur in other bones
- Distinctive facial features
- Flattened nose
- Flat nasal bridge
- Potential Spinal Stenosis
- Potential heart defect
- Hearing and vision abnormalities
*Please be aware, not all of the characteristics may be present*
Other information about X-linked Chondrodysplasia Punctata 1
- Males are mostly affected
- Affected females are extremely rare
Genetics of X-linked Chondrodysplasia Punctata 1
- X-linked Chondrodysplasia Punctata 1 is passed on in an X-linked recessive pattern. In males one altered X chromosome can result in X-linked Chondrodysplasia Punctata 1, in females two altered X chromosomes are needed to result in X-linked Chondrodysplasia Punctata 1.
- If mother is a carrier and father is not, children affected is dependent on the gender of the child:
- Male children has 50% chance of having X-linked Chondrodysplasia Punctata 1
- Female children has 50% of being a carrier of X-linked Chondrodysplasia Punctata 1
- If father has X-linked Chondrodysplasia Punctata 1 and mother is not a carrier:
- Male children will be unaffected
- Female children will be carriers
Additional reading about X-linked Chondrodysplasia Punctata 1
- Genetic Home Reference - X-linked Chondrodysplasia Punctata 1X-linked Chondrodysplasia Punctata 1
- GeneReviews - NCBI - X-linked Chondrodysplasia Punctata 1X-linked Chondrodysplasia Punctata 1
- Rare Disease - X-linked Chondrodysplasia Punctata 1