Campomelic dysplasia is a rare genetic disorder that affects the skeletal and reproductive systems, causing visible symptoms such as dislocated hips, shorter legs, and ambiguous genitalia. It is often fatal in infancy and there is no standard treatment available.
Campomelic dysplasia is a rare but often fatal genetic disorder that 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 club feet. The genitalia may not be obviously male or female, or genetic males may be born with female genitalia. Most people born with this disease rarely survive infancy, and those who do tend to develop further 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 faulty gene can be inherited, although in many cases it is thought to be due to a spontaneous genetic mutation. Most of the symptoms of this condition are visibly evident at the time of birth, although some may only become evident through the use of diagnostic testing methods such as X-rays. Genetic testing can confirm the suspected diagnosis of this disease.
Skeletal problems in those with campomelic dysplasia can vary in appearance and severity, although there are a group of typical features that are usually present to some degree. Legs may be bent or shorter than normal, hips may be dislocated at birth, or feet may be clubbed. The shoulder blades are often underdeveloped and there may be abnormalities in the neck bones. 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 cannot be clearly defined as male or female by simple observation, a condition called ambiguous genitalia. Patients born with male chromosomes may have genitalia that make them appear female. Regardless of gender, the reproductive organs do not always correspond internally to external organs.
In most cases, campomelic dysplasia becomes fatal in early childhood due to the wide range of physical abnormalities, especially those that limit the ability to breathe. Spine abnormalities such as scoliosis often develop in children who survive infancy. Due to the serious 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 attempt to prolong the patient’s life, but this effort is typically in vain and is often used to give the child’s parents some time to accept the fact that the child will probably not survive .
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