About campomelic dysplasia

What is campomelic dysplasia?

Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. This condition is often life-threatening in the newborn period. The term "campomelic" comes from the Greek words for "bent limb." Affected individuals are typically born with bowing of the long bones in the legs, and they are occasionally born with bowing in the arms. Bowing can cause characteristic skin dimples to form over the curved bone, especially on the lower legs. People with campomelic dysplasia also usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and feet that are abnormally rotated (clubfeet). When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia.

Many people with campomelic dysplasia have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Approximately 75 percent of affected individuals with a typical male chromosome pattern (46,XY) have ambiguous genitalia or normal female genitalia. Internal reproductive organs may not correspond with the external genitalia; they can be male (testes), female (ovaries), or a combination of the two.

Affected individuals have distinctive facial features, including a small chin, prominent eyes, and a flat face. They also have a large head compared to their body size. A particular group of physical features, called Pierre-Robin sequence, is common in people with campomelic dysplasia. Pierre-Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). People with campomelic dysplasia are often born with weakened cartilage that forms the upper respiratory tract. This abnormality, called laryngotracheomalacia, partially blocks the airway and causes difficulty breathing. Laryngotracheomalacia contributes to the poor survival of infants with campomelic dysplasia.

Only a few people with campomelic dysplasia survive past infancy. As these individuals age, they may develop an abnormal curvature of the spine (scoliosis) and other spine abnormalities that compress the spinal cord. People with campomelic dysplasia may also have short stature and hearing loss.

What are the symptoms for campomelic dysplasia?

Vertically oriented and narrow pelvis symptom was found in the campomelic dysplasia condition

The term "campomelic" comes from Greek, meaning "bent limb." Affected individuals are typically born with bowing of the long bones in the legs, and they are occasionally born with bowing in the arms. Bowing can cause characteristic Skin dimples to form over the curved bones, especially on the lower legs.

People with campomelic dysplasia usually also have Short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck and feet that are abnormally rotated (clubfeet). When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia.

Many people with campomelic dysplasia have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Approximately 75% of affected individuals with a typical male chromosome pattern (46,XY) have ambiguous genitalia or normal female genitalia. Internal reproductive organs may not correspond with the external genitalia; they can be male (testes), female (ovaries) or a combination of the two.

Affected individuals have distinctive facial features, including a small chin, Prominent eyes and a flat face. They also have a Large head compared to their body size. A particular group of physical features, called Pierre-Robin sequence, is common in people with campomelic dysplasia. Pierre-Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis) and a Small lower jaw (micrognathia). People with campomelic dysplasia are often born with weakened cartilage that forms the upper respiratory tract. This abnormality, called laryngotracheomalacia, partially blocks the airway and causes difficulty breathing. Laryngotracheomalacia contributes to the poor survival of infants with campomelic dysplasia.

What are the causes for campomelic dysplasia?

Mutations in or near the SOX9 gene cause campomelic dysplasia. The SOX9 gene provides instructions for making the SOX9 protein, which plays a critical role in the formation of many different tissues and organs during embryonic development. The protein regulates the activity of other genes, especially those that are important for development of the skeleton and reproductive organs. When the mutations within the SOX9 genes prevent the production of the SOX9 protein or result in a protein with impaired function, the result is campomelic dysplasia.

About 5% of cases are caused by chromosome abnormalities that occur around the SOX9 gene. These chromosome abnormalities disrupt regions of DNA that normally regulate the activity of the SOX9 gene. All of these genetic changes prevent the SOX9 protein from properly controlling the genes essential for normal development of the skeleton, reproductive system, and other parts of the body, causing the signs and symptoms of campomelic dysplasia.

What are the treatments for campomelic dysplasia?

Treatment of respiratory problems consists of mechanical or physical breathing assistance such as positive end expiratory pressure (PEEP). Orthopedic medical care including surgery may help alleviate some of the more serious bone deformities. The bowed tibiae usually straighten spontaneously.

It may be appropriate to reassign the sex of a male with female genitalia to be female.

Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.

The Vertical Expandable Prosthetic Titanium Rib (VEPTR) was approved by the FDA in 2004 as a treatment for thoracic insufficiency syndrome (TIS) in pediatric patients. TIS is a congenital condition where severe deformities of the chest, spine, and ribs prevent normal breathing and lung development. The VEPTR is an implanted, expandable device that helps straighten the spine and separate ribs so that the lungs can grow and fill with enough air to breathe. The length of the device can be adjusted as the patient grows. The titanium rib was developed at the University of Texas Health Science Center in San Antonio. It is manufactured by Synthes Spine Co.

Is there a cure/medications for campomelic dysplasia?

Cure or Medication for campomelic dysplasia

Campomelic dysplasia has no known treatment; alternatively, it is treated or prevented. The structural problems may potentially be corrected by surgical techniques. The following are the treatments for Campomelic dysplasia.

1. PEEP: Positive end-expiratory pressure (PEEP), a mechanical breathing aid, may help affected people with respiratory issues.

2. Bone Surgery: Some of the most severe bone abnormalities may be treated by bone surgery. Usually, bowed legs will straighten on their own.

3. FDA-approved treatment: The vertical expandable prosthetic titanium rib (VEPTR), a therapy for thoracic insufficiency syndrome (TIS) in children with campomelic dysplasia, was given FDA approval in 2004. Due to significant rib, chest, and spine abnormalities, TIS is a congenital disorder that makes it unable to breathe normally. To help straighten the spine and separate the ribs, the VEPTR is implanted in the chest. This allows for adequate lung expansion and easier breathing as a result.

The survival rate of Campomelic dysplasia
Few patients of campomelic dysplasia live past childhood. Scoliosis and other abnormalities of the spine that compress the spinal cord may occur in these people as they get older. Those who have campomelic dysplasia may also be deaf or have small stature.

Symptoms
Underdeveloped shoulder blades,Shortened lower limbs,Vertically oriented and narrow pelvis,Enlarged head,Small lower jaw,Small chin,Prominent eyes,Cleft palate (an opening or split in the roof of the mouth),Flat nasal bridge
Conditions
Abnormal facies,multiple congenital anomalies,A typical pattern of skeletal abnormalities
Drugs
Surgery is required

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