What Is Campomelic Dysplasia?

Campomelic dysplasia is a rare, yet often fatal, genetic disease which interferes with the normal development of the skeletal and reproductive systems. Some of the visible symptoms of this disorder may include dislocated hips, shorter than average legs, and clubfeet. The genitals may not be obviously male or female, or genetic males may be born with female genitalia. Most born with this disease rarely survive past infancy, and those who do tend to develop additional health problems. Any questions or concerns about this disease should be discussed with a doctor or other medical professional.

A genetic abnormality is thought to be responsible for the development of campomelic dysplasia. In some cases, the defective gene may be inherited, although it is thought to be due to a spontaneous genetic mutation in many instances. The majority of the symptoms of this condition are visibly noticeable at the time of birth, although some may only become apparent through the use of diagnostic testing methods such as x-rays. Genetic testing can confirm the suspected diagnosis of this disease.

Skeletal issues in those with campomelic dysplasia may vary in appearance and severity, although there are a group of typical features which are normally present in some degree. The legs may be bowed or shorter than normal, the hips may be dislocated at birth, or the feet may be clubbed. The shoulder blades are often underdeveloped, and there may be abnormalities present in the bones of the neck. Some patients born with campomelic dysplasia are missing one of the normal 12 sets of ribs.

Abnormalities affecting the reproductive organs are common among those with campomelic dysplasia. Many times, the genitalia can not be clearly defined as either male or female by mere observation, a condition called ambiguous genitalia. Patients who are born with male chromosomes may have genitals which make them appear female. Regardless of gender, reproductive organs don't always match up internally with external organs.

In the majority of cases, campomelic dysplasia becomes fatal during early infancy due to the wide range of physical abnormalities, especially those which restrict the ability to breathe. Spine abnormalities such as scoliosis often develop in children who survive past infancy. Due to the severe nature of this disease, there is no standard treatment available for those born with campomelic dysplasia. Emergency life support measures may be used in an effort to prolong the life of the patient, but this effort is typically in vain and is frequently used in order to allow the parents of the child a little time to come to terms with the fact that the child will likely not survive.