Campomelic syndrome, long-limb type, is a rare disorder that affects the bones, muscles and cartilage. Symptoms of this condition include abnormal facial features, abnormal hand structure and abnormal joint development. It can also lead to limb deformities, such as clubfoot or curved fingers. In some cases, the affected person may have only one hand with a shortened ulna (forearm bone).
There are no known causes for the campomelic syndrome, long-limb type. However, it is thought to be genetic in nature. The condition occurs equally in males and females. It may also be linked to other conditions such as Marfan syndrome and Stickler syndrome.
Campomelic syndrome is caused by mutations in the GDF8 gene. The disorder is inherited in an autosomal dominant manner which means that only one parent needs to have the mutated gene for it to be passed on to their children.
There are several risk factors for the campomelic syndrome, long-limb type:
1. The disease can run in families. If you have a child with this condition, you have an increased chance of having another child with it too—even if you didn't have any symptoms yourself when you were younger.
2. Being male increases your risk of developing Campomelic syndrome because males are more likely than females to have an X chromosome abnormality (like having only one X chromosome instead of two).
3. Being tall increases your risk because people who are taller tend to have longer limbs than those who aren't as tall.
4. Genetic mutations related to a gene called FGF4.
5. Environmental risk factors like exposure to certain chemicals or viruses during pregnancy
Shortness of the arms and legs,Lower limbs that are smaller than normal,Low birth weight,An unusually short trunk (stooped posture),The appearance of bowed legs and knock knees
Short stature (height),An unusually small head size (microcephaly),Curved fingers (camptodactyly),Abnormal curvature of the spine (kyphoscoliosis),Abnormal curvature of the spine (kyphoscoliosis)
Azathioprine,Methotrexate,Mycophenolate mofetil (MMF),Rituximab