What is the definition of Recessive Chondrodysplasia Punctata 1?
Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, infants with CDPX1 have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between ages 2 and 3. Additional common features of CDPX1 are shortened fingers and a flattened nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and intellectual delays.
CDPX1 is caused by mutations in the ARSE gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner and occurs almost exclusively in males. Most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening. Although there is no specific treatment or cure for CDPX1, there are ways to manage symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.
What are the alternative names for Recessive Chondrodysplasia Punctata 1?
- Chondrodysplasia punctata 1 X-linked recessive
- Arylsulfatase E deficiency
- Chondrodysplasia punctata, brachytelephalangic
- Chondrodysplasia punctata brachytelephalangic
What is the outlook (prognosis) for Recessive Chondrodysplasia Punctata 1?
Most individuals with CDPX1 have a normal life span; however, some people have significant medical problems that can lead to early death. These life-threatening complications include abnormalities of the respiratory tract that result in a narrow airway and abnormalities of the spinal bones in the neck that narrow the spinal cord canal.
Is Recessive Chondrodysplasia Punctata 1 an inherited disorder?
CDXP1 is inherited in an X-linked recessive manner. X-linked recessive conditions usually occur in males, who only have one X chromosome (and one Y chromosome). Females have two X chromosomes, so if they have a gene mutation on one of them, they still have a normal copy on their other X chromosome. For this reason, females are typically unaffected. While females can have an X-linked recessive condition, it is very rare. There are no known cases of females carriers of CDXP1 with symptoms.
If a mother is a carrier of an X-linked recessive condition and the father is not, the risk to children depends on each child's sex.
- Each male child has a 50% chance to be unaffected, and a 50% chance to be affected
- Each daughter has a 50% chance to be unaffected, and a 50% chance to be an unaffected carrier
If a father has the condition and the mother is not a carrier, all sons will be unaffected, and all daughters will be unaffected carriers.