Campomelic Dysplasia - Causes, Symptoms, Diagnosis, and Treatment

Creator: Dr. Jayati Dubey
Published: 2023-04-05T18:32:05

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Campomelic dysplasia is a rare and serious genetic disorder affecting newborn babies. Read the article to know more about this condition in detail.

Written by

Dr. Jayati Dubey

Medically reviewed by

Dr. Veerabhadrudu Kuncham

April 5, 2023

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Contents

What Is Campomelic Dysplasia?
What Causes Campomelic Dysplasia?
What Are the Indications of Campomelic Dysplasia?
How to Diagnose Campomelic Dysplasia?
How Is Campomelic Dysplasia Treated?

What Is Campomelic Dysplasia?

Campomelic dysplasia is a severe genetic condition that impacts the development of a baby's bones, lungs, airway, and reproductive organs. The disorder is a type of osteochondrodysplasia, which causes abnormal bone and cartilage growth and a variation of dwarfism.

Various systems are impacted by bone and cartilage growth issues, resulting in serious health issues. However, breathing difficulties are the most serious symptom of campomelic dysplasia. The abnormally small chest and ribcage of babies with campomelic dysplasia prevent their lungs from growing normally. Additionally, their weakened windpipe cartilage can partially obstruct their airways.

Campomelic dysplasia increases the likelihood of stillbirth in infants. Even though the symptoms and lifespan vary for each infant, most have a survival period of less than a year after birth due to severe breathing problems.

What Causes Campomelic Dysplasia?

Campomelic dysplasia is a genetic condition brought on by changes or mutations in the SOX9 gene or its vicinity. During fetal development, this gene affects the formation of numerous tissues and organs, including the skeleton and reproductive system. These genetic mutations may be inherited in some instances. However, campomelic dysplasia typically affects infants without a family history. When the sperm and egg cells combine during fertilization, random new gene mutations result in this condition.

What Are the Indications of Campomelic Dysplasia?

The prenatal ultrasound of the baby may show the following signs of campomelic dysplasia:

Curved or bowed bones, typically in the legs.
Poorly developed limbs, for example, clubfoot.
Short stature and short limbs.
Underdeveloped and small jaws.
A fluid buildup in the brain (hydrocephalus).
Polyhydramnios or excess amniotic fluid (fluid surrounding and protecting the baby in the uterus).

After the birth of the baby, doctors may detect similar or additional signs and symptoms of campomelic dysplasia that may be affecting the following areas of the body-

Airway and Lungs:

Laryngotracheomalacia is a condition in which soft cartilage in the voice box and windpipe can obstruct the airway and make breathing difficult.
The small size of the chest and rib cage causes underdeveloped lungs.

Head and Face:

Prominent forehead.
The unusually large size of the head.
Flat features of the face.
Opening or slit in the roof of the mouth (cleft palate).

Reproductive System:

External reproductive organs that are not identified as either male or female (ambiguous genitalia).
Presence of both sets of internal reproductive organs (ovaries and testes).
Male chromosomes with female external genitalia.

Arms and Legs:

The unusually short size of arms and legs.
Bowing of the long leg bones and sometimes the arms.
Thin bones in the pelvis.
Clubfoot (feet turning inwards and upwards).
Unstable hip joints that are prone to dislocation.

Neck, Chest, and Back:

Underdeveloped or missing shoulder blades.
Underdevelopment of the vertebrae (spinal bones) in the neck and upper back.
The short size of the trunk.
Missing a pair of ribs.

How to Diagnose Campomelic Dysplasia?

If a doctor suspects campomelic dysplasia based on prenatal ultrasound, additional tests may be ordered during pregnancy. A fetal genetic counselor will further guide the most appropriate test for a family. These tests may include the following:

Amniocentesis - Using a thin needle that is inserted into the uterus through the belly of the mother, a small amount of amniotic fluid is collected by the doctor. Chromosomal and genetic conditions like campomelic dysplasia can be found through amniocentesis.
Chorionic Villus Sampling (CVS) - CVS, like amniocentesis, can detect chromosomal and genetic disorders. The doctor takes a small amount of sample tissue from the placenta, the organ that feeds the baby inside the uterus.
Fetal Ultrasound - The fetus is carefully examined with the help of a targeted and comprehensive ultrasound to detect signs of campomelic dysplasia. Findings from an ultrasound during a routine anatomy scan in the second trimester or a growth scan in the third trimester raise the possibility of the condition.

After the birth of the baby, doctors diagnose this condition with the following:

A physical examination.
X-ray of the entire body of the baby to look for problems associated with the bones.
Genetic testing of the blood sample of the baby.

During pregnancy, ultrasound can detect campomelic dysplasia; however, other skeletal dysplasias may exhibit similar sonographic characteristics. Therefore, DNA (deoxyribonucleic acid) or radiographic examination should confirm the diagnosis after birth. In addition, the accumulation of additional amniotic fluid around the baby in some women is noted. This condition is called polyhydramnios. It has the potential to overstretch the uterus, resulting in preterm labor. Additionally, the baby may not survive the duration of the pregnancy.

How Is Campomelic Dysplasia Treated?

Unfortunately, campomelic dysplasia cannot be treated before birth, and babies with this condition have a higher risk of stillbirth. Most children born with campomelic dysplasia survive for less than a year.

Infants born with campomelic dysplasia are most often unable to survive after birth due to severe breathing problems caused by laryngotracheomalacia, a weakened voice box, windpipe, or neural damage caused by cervical spine instability. Therefore, when babies are born, they are quickly placed on a ventilator to help them breathe.

Pediatric and neonatal specialists treat the baby to help alleviate symptoms and prevent further complications. The treatment for laryngotracheomalacia depends on each baby's needs.

Advanced care is necessary for babies who survive this condition to improve their quality of life and avoid complications. The care may include the following:

Orthopedic treatments, including surgery.
Respiratory care.
Urologic surgery.
Craniofacial surgery.

No pre-birth treatment exists, and ending the pregnancy is a choice. However, follow-up and obstetric care should continue as usual if the pregnancy continues. The baby should be delivered in a tertiary maternity center.

Conclusion

Campomelic dysplasia is a rare genetic condition that affects how the face, reproductive system, and skeleton develop. Babies born with this condition have a low survival rate because of breathing difficulties. Physical examination and X-ray (radiograph) findings are the foundation for a diagnosis, which can also be confirmed through genetic testing. The goals of the treatment are to prevent or manage known symptoms and complications of this condition.

Frequently Asked Questions

1. What Ultrasound Observations Are Associated with Campomelic Dysplasia?

Campomelic dysplasia, a rare genetic disorder affecting skeletal development, can be observed through ultrasound with bowed lower limbs, underdeveloped scapulae and clavicles, cleft palate, micrognathia, vertebral abnormalities, and reduced fetal movement. These findings assist in prenatally diagnosing the condition and preparing for potential medical interventions post-birth.

2. What Other Medical Conditions Can Be Considered in the Differential Diagnosis of Campomelic Dysplasia?

In the differential diagnosis of Campomelic dysplasia, conditions to consider include Robinow syndrome, achondrogenesis, otopalatodigital syndrome type II, and Holt-Oram syndrome. These conditions exhibit some skeletal abnormalities but differ in distinct features like facial characteristics and limb anomalies, necessitating thorough clinical and genetic assessments for accurate differentiation.

3. What Are the Defining Characteristics of Individuals with Campomelic Dysplasia?

Individuals with Campomelic dysplasia typically display distinctive skeletal anomalies such as bowed lower limbs, shortening of long bones, and underdeveloped scapulae and clavicles. They often have facial features including a cleft palate, micrognathia, and widely spaced eyes, along with possible genitourinary anomalies. Respiratory challenges in newborns may also occur. These defining characteristics, varying in severity, help identify Campomelic dysplasia.

4. Are There Any Available Treatments or Interventions for Individuals Diagnosed with Campomelic Dysplasia?

Treatment for Campomelic dysplasia aims to manage symptoms and complications. Orthopedic surgeries may address skeletal issues, while newborns might require immediate respiratory support. Surgical intervention may be necessary for genitourinary anomalies. Multidisciplinary care and supportive therapies, such as physical and occupational therapy, play crucial roles in optimizing mobility and addressing developmental challenges. As there's no cure, current treatment focuses on improving the quality of life through symptom management and supportive care.

5. What Is the Underlying Cause or Etiology of Campomelic Dysplasia?

Campomelic dysplasia is primarily caused by mutations or alterations in the SOX9 gene, an essential regulator in embryonic development. Normally, SOX9 directs the formation of cartilage and bone during fetal development, playing a critical role in the differentiation of precursor cells into these tissues. Mutations in the SOX9 gene can disrupt this process, leading to skeletal abnormalities, particularly affecting the long bones, spine, and other skeletal structures. These genetic alterations can also affect other systems, contributing to the characteristic features seen in Campomelic dysplasia, such as facial abnormalities and genitourinary anomalies.

6. What Are Some of the Most Prevalent Genetic Disorders Affecting Newborns?

Several prevalent genetic disorders affecting newborns include Down syndrome (caused by an extra chromosome 21), cystic fibrosis (resulting in lung and digestive issues), sickle cell disease (affecting red blood cells), congenital heart defects, phenylketonuria (PKU, impacting amino acid metabolism), and neural tube defects like spina bifida. Early diagnosis and appropriate management are critical for these conditions, which vary in severity and impact on health and development.

7. Which Specific Gene Experiences Mutations in Campomelic Dysplasia?

Campomelic dysplasia is primarily caused by mutations in the SOX9 gene. This gene is crucial in directing the formation of cartilage and bone during embryonic development. Mutations in the SOX9 gene disrupt its normal function, affecting the differentiation of precursor cells into bone and cartilage tissues, leading to the skeletal abnormalities characteristic of Campomelic dysplasia. These mutations can also impact other systems, contributing to the varied features associated with this condition, such as facial abnormalities and genitourinary anomalies.

8. Can Campomelic Dysplasia Be Managed or Treated Medically?

While there is no cure for Campomelic dysplasia, medical management is essential to address the associated complications. Treatment may involve surgeries to correct skeletal deformities, orthopedic interventions, respiratory support to manage breathing difficulties, and ongoing medical care to monitor and manage the patient's health.

9. What Is the Expected Survival Rate or Prognosis for Individuals with Campomelic Dysplasia?

The prognosis for Campomelic dysplasia varies widely. Severe respiratory issues at birth can lead to high neonatal mortality rates. Advances in medical care have improved survival for some, but outcomes depend on the extent of skeletal abnormalities and associated complications. With comprehensive care, some individuals survive into childhood or adulthood, though with varying degrees of disability and medical needs.

10. How Is the Inheritance Pattern of Campomelic Dysplasia Characterized?

Campomelic dysplasia usually follows an autosomal dominant inheritance pattern, meaning one copy of the mutated gene (SOX9) from a parent can cause the condition. Occasionally, it can arise from new mutations. In this pattern, affected individuals have a 50% chance of passing on the mutated gene to their children. Severity can vary even among affected family members due to genetic and environmental factors.

11. What Diagnostic Methods Are Employed to Identify Campomelic Dysplasia?

Diagnosis of Campomelic dysplasia often involves a combination of clinical evaluation, radiological imaging (such as X-rays), and genetic testing. Prenatal diagnosis can be made through ultrasound examinations that reveal characteristic features in the developing fetus.

12. What Other Conditions Should Be Considered When Diagnosing a Case That Resembles Campomelic Dysplasia?

When diagnosing a case that resembles Campomelic dysplasia, it's important to consider other skeletal dysplasias and genetic syndromes with similar clinical features. Differential diagnoses may include Larsen syndrome, Pierre Robin sequence, or other rare genetic disorders affecting bone development and facial structures.

13. How Is Campomelic Dysplasia Typically Inherited?

Campomelic dysplasia is usually inherited in an autosomal dominant pattern. This means that inheriting a single copy of the mutated gene (in this case, the SOX9 gene) from either parent is sufficient to cause the condition. However, sporadic cases can also occur due to new mutations in the SOX9 gene, not inherited from either parent. In autosomal dominant inheritance, there's a 50% chance that an affected individual will pass on the mutated gene to each of their children.

14. What Factors Contribute to the Mortality Associated with Campomelic Dysplasia?

Campomelic dysplasia's mortality is primarily linked to severe respiratory issues caused by skeletal abnormalities affecting the rib cage and airway, leading to respiratory distress. Additionally, genitourinary anomalies, potential cardiovascular problems, the severity of skeletal malformations, and multi-organ involvement contribute to increased mortality risk. Immediate medical intervention, respiratory support, and long-term multidisciplinary care are crucial, but despite advancements, the condition's variability and severity still pose significant risks, especially in the neonatal period.

15. What Leads to Fatalities in Individuals with Campomelic Dysplasia?

Fatalities in individuals with Campomelic dysplasia primarily result from severe respiratory complications shortly after birth. The skeletal abnormalities affecting the rib cage and airway lead to respiratory distress, compromising lung function and causing respiratory failure. Newborns affected by Campomelic dysplasia often face significant challenges in breathing due to these skeletal anomalies, which can ultimately lead to fatal outcomes if immediate and intensive respiratory support is not provided.

Sources

Dr. Veerabhadrudu Kuncham

Pediatrics

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