Campomelic dysplasia is a rear yet severe genetic disorder (1 in every 40,000 births) that affects the growth of the skeleton and reproductive system. And, in fact, this medical condition is more severe and life-threatening in the newborn period.

The term Campomelic is derived from the Greek words for “curved limb.” Under this state, the affected individual is typically born with bending of the long bones in the legs, and occasionally in the arms. This bowing can lead to characteristic skin dimples to form over the bent bone, and in particular on the lower legs.

People with Campomelic dysplasia disorder usually have short legs, underdeveloped shoulder blades, and 11 pairs of ribs in its place of 12, dislocated hips, bone abnormalities in the neck, and clubfeet. And, in some handful of cases around the globe, the persons diagnosed with Campomelic dysplasia have external genitalia that impacts their sexual individuality (not look clearly male or clearly female), often known as ambiguous genitalia.

Causes

Many top medical institutions claim this genetic disorder happens as a result of an infrequent mutation on a specific gene “SOX9 on chromosome 17,” which controls fabrication of the skeleton and reproductive system in the mother’s womb. And, in some rarest of rare scenarios, passed on from one parent to child, means the child has to inherit only one anomalous gene from either parent to satisfy the Campomelic dysplasia.

How can it be diagnosed?

Prenatal diagnosis of Campomelic dysplasia is not a new thing; it is possible if the bowed legs bones can be recognized during an ultrasound scan. On the flip side, after birth x-rays are used to discover and understand the extent of bone bowing, plus, physical checks by the doctors are always best to identify are symptoms associated with Campomelic dysplasia. And at last, Genetic testing is suggested by the physicians to determine the baby’s genetic gender.

Treatment procedure of Campomelic dysplasia

At first, in an ideal scenario, Paley Institute Orthopedics physician puts the baby on the ventilator to deal with severe respiratory problems caused by the laryngotracheomalacia. Some need an opening directly into the windpipe (tracheostomy) to be able to respire unaided.

Once a stable state is reached, other symptoms will be confirmed and treated as compulsory.  This may cover surgery to condense the bending of the leg bones, treatment of any hip problems with bracing, rectification of talipes with plaster casts and surgery. And, then the genetic gender of the baby is to find out if the baby needs a genitourinary surgery. It can be done during infancy or later in childhood.

And, later in life, spinal surgery may be performed as per the requirement of treating scoliosis as well as to stabilize the neck bones. Plus, hearing impairment, a common long-term problem of Campomelic dysplasia will usually be improved using hearing aids.

At last, a baby born with Campomelic dysplasia requires regular long-term monitoring, especially of the spine and neck. Today, the number of children, those who survive to adolescence and beyond is increasing at a considerable rate thanks to the advancement made in the field of medical science and timely treatment.