Chondrodysplasia lethal recessive
Type of disease: Rare conditions
Chondrodysplasia lethal recessive is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes. The main birth defect of chondrodysplasia lethal recessive is severe shortening of the arms and legs that are curved inward, but hands and feet are a normal size. Other findings include atypical facial proportions such as a large skull, short neck, flat nose region, low muscle tone, overly flexible arms and legs, and narrow chest region. Presently there is no cure or successful treatment for babies born with chondrodysplasia lethal recessive. Sadly, most babies with this disease die within the first hours or weeks of life because of breathing issues.
Although only a few cases have been reported, this condition is thought to be inherited or passed through families in an autosomal recessive pattern. Recessive means that an affected individual must have two copies of the changed gene that causes the condition, one inherited from each parent. Talking to a genetic counselor or specialist if you have a family history of chondroplasia lethal recessive will help you understand your chance of having an affected baby. It is important if your baby is diagnosed with chondrodysplasia lethal recessive to talk with your doctors and specialists about any advances in treatment. Contacting a support groups may also be very helpful.