What is X-linked Chondrodysplasia Punctata 2?
- A form of dwarfism (skeletal dysplasia)
- Affects bone, skin and eye abnormalities
- Caused by mutation in EBP gene
- Estimated to affect fewer than 1 in 400,000
Diagnosis of X-linked Chondrodysplasia Punctata 2
- After birth
- Presence of clinical findings
- Observation of physical characteristics
What are the common characteristics of X-linked Chondrodysplasia Punctata 2?
- Short stature
- Shortening of bones in upper arms and thighs different on either side of the body
- Stippling on x-rays (spots near ends of bones and in cartilage)
- Long bones in arm and legs
- Ribs
- Vertebrae (spine)
- Trachea
- Distinctive facial features
- Flattened nose
- Flat nasal bridge
- Progressive Kyphoscoliosis
- Abnormal skin patches
- scaly skin (Ichthyosis) in various ‘patterns’
- abnormally coloured with no hair (follicular atrophoderma)
- Clouded lens of the eye (cataract)
- Potential other eye abnormalities
- Distinctive facial features
*Please be aware, not all of the characteristics may be present*
Other information about X-linked Chondrodysplasia Punctata 2
- Occurs mostly in females
- Affected males are extremely rare
Genetics of X-linked Chondrodysplasia Punctata 2
- X-linked Chondrodysplasia Punctata 2 is passed on an X-linked dominant pattern.
- Different occurence depending on whether Mother or Father is affected.
Additional reading about X-linked Chondrodysplasia Punctata 2
- Genetic Home Reference - X-linked Chondrodysplasia Punctata 2X-linked Chondrodysplasia Punctata 2
- GeneReview - NCBI - X-linked Chondrodysplasia Punctata 2X-linked Chondrodysplasia Punctata 2
- Rare Diseases - X-linked Chondrodysplasia Punctata 2X-linked Chondrodysplasia Punctata 2
- OMIM - X-linked Chondrodysplasia Punctata 2X-linked Chondrodysplasia Punctata 2
