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Cerebro Costo Mandibular Syndrome - Causes, Symptoms, Diagnosis, and Treatment

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It is a very rare autosomal disease (genetically transmitted disease) that shows defects in bone growth when one or more genes are not working correctly.

Written byDr. Leona Dafni. M

Medically reviewed byDr. Kaushal Bhavsar

Published At January 13, 2023
Reviewed AtJuly 13, 2023

Introduction:

Cerebro costo mandibular syndrome (CCMS) is a developmental disorder due to a defect in the embryonic developmental arches. CCMS was first reported by Smith et al. in 1966. CCMS is called rib gap defect syndrome or Smith - Theiler - Schachenmann syndrome.

What Does the Name Cerebro-Costo-Mandibular Mean?

  • Cerebro - The word “cerebro” means brain or a part of the "brain."

  • Costo - The word costo is derived from the Latin word costa, which means "rib."

  • Mandibular - The lower bone of the jaw forming the mouth is called the "mandible."

So cerebro costo mandibular is a syndrome that affects the parts of the brain or vertebral column, rib bone, and the mandible.

How Commonly Is Cerebro-Costo-Mandibular Syndrome Seen?

Cerebrocostomandibularsyndrome was considered a very rarely occurring genetic disorder by Smith and his team in 1966. Later in 1985, Robert studied an incidence of CCMS associated with Pierre Robinson syndrome (the development defect at birth characterized by underdeveloped facial and jaw bones). The overall incidence of patients affected is 80 people in the literature. CCMS has seen children from the 41st week of gestation to three months. The reported death cases are seen in 30 to 58 % of cases. It is seen to affect both males and females equally.

What Causes Cerebro-Costo-Mandibular Syndrome?

Cerebro costo mandibular syndrome is a genetic disorder occurring due to a defect in the SNRPB gene, which results in developmental disorders in the child from the gestation period. The SNRPB gene is called the small nuclear ribonucleoprotein polypeptide B and B1. SNRPB is a protein-encoding gene that codes many proteins like U1, U2, U4, U6, and U5, where small protein compounds are present in the cell. Although there are two SNRPB genes in the body, the defect can be passed down from the mother or the father gene, where the chances of passing it down from the parents to children are around 50 %. However, there has also been an incidence of children who have inherited the gene showing no symptoms of CCCMS, and the cause remains unknown. Other unknown possible reasons are also seen, as the involvement of the SNRPB gene is only seen in some cases.

What Are the Clinical Symptoms of Cerebro-Costo-Mandibular Syndrome?

CCMS shows the following clinical symptoms, they are:

  • Cleft palate.

  • Ribs with more gaps.

  • Difficulty in feeding.

  • Breathing difficulties.

  • Bent spine (scoliosis).

  • Heart septal defect.

  • Horseshoe-shaped kidney.

  • Small head.

  • Developmental defects in the penis.

  • Elbow hypoplasia (decreased cell growth).

  • Spina bifida (a congenital disability where the baby's spine fails to develop properly).

  • Underdeveloped jaws.

  • Intellectual disability.

  • Hearing loss.

  • Mental retardation.

  • Smaller clavicle.

How Is Cerebro-Costo-Mandibular Syndrome Diagnosed?

The diagnosis of CCMS can be made in two scenarios:

  • Before Birth: The diagnosis is made before birth, during the 30 to 41st week of gestation (in the womb). It can be done by using advanced imaging methods like ultrasounds. The ultrasound used for the fetus shows sound waves to give an image of the developing fetus showing signs of CCMS.

  • After Birth: After childbirth, the diagnosis is made using clinical checkups, physical examinations, and imaging.

How Is Cerebro-Costo-Mandibular Syndrome Evaluated?

Various evaluation techniques are used to monitor the degree of deformity due to cerebro-costo-mandibular syndrome. They are:

Radiographs (X-Rays): The X-rays showmultiple bilateral posterior rib gap defects. An underdeveloped lower jaw bone (mandible) with a small upper jaw bone (maxilla) is seen. The other radiological features are:

  • Bell-shaped thorax.

  • Rib fractures.

  • Obstruction of the upper airway.

  • Flask-shaped pelvic bone.

  • The cleft palate shows curvature on both sides.

Computed Tomography (CT): Computed tomography In CCMS is used to study anatomical changes in detail. CT imaging shows us:

  • The nature of the bony defect.

  • Lung-airway abnormalities.

  • Changes in the structure of the chest wall.

  • Abnormalities in the spine.

Magnetic Resonance Imaging (MRI): Magnetic resonance imaging is an imaging technique used to examine the bone along with the associated muscles, tendons, and cartilage. It is used to study the following:

  • Degree of brain development.

  • Structures of the Brain and spine.

  • Structure of ribs.

How Is Cerebro-Costo-Mandibular Syndrome Treated?

The treatment for CCMS depends on the symptoms a person is having. The treatment is usually a multispecialty team approach with surgeons, child specialists, lung specialists, general physicians, pathologists, hearing specialists, and speech therapists who decide on the child's treatment plan. The type of treatments are:

Non-Surgical Treatment: Breathing difficulties in children can put them in distress and be fatal; hence,

  1. Respiratory management is of prime importance.

  2. Feeding is done through a tracheostomy, where a tube is inserted into the throat, and food is delivered through that. Recommended antibiotics are given to prevent severe cases of infection. Targeted therapy is given to particular symptoms to ease the conditions like speech.

  3. The babies are monitored severely with a continuous oxygen supply.

  4. Treatments are offered to aid in eating, speech, and hearing.

  5. Hearing aids are given to patients with hearing loss due to CCMS.

Surgical Treatment: Different surgical approaches are made to treat CCMS based on the type of defect. Children born with CCMS need surgery for the first year of life to help them breathe. Different surgical approaches are used to treat different kinds of defects. The surgeries done are:

  1. Surgeries done to fix the cleft palate.

  2. Surgery for correction of the caged chest.

  3. Tracheostomy which is a procedure done by surgically opening the windpipe to allow easy breathing.

  4. VEPTR (vertical expandable prosthetic titanium ribs) is a prosthetic rib placement approved by the FDA (food and drug administration) in 2004. This treatment is done to treat conditions with insufficient rib cage width to expand the ribs, which helps in lung expansion and essay breathing.

Genetic Counseling: Genetic counseling is advised for parents and people with CCMS. Genetic testing is recommended to prevent disease transmission from parents to children. Family counseling is also given to educate them regarding the condition and prevent it through gene therapy or modulation.

What Are the Similar Conditions to Be Differentiated?

The other similar conditions which resemble CCMS are:

Pierre-Robin Syndrome - It is a collection of disorders occurring due to a particular syndrome or a group of diseases. It shows:

  1. Smaller jaws.

  2. Improper positioning of the tongue.

  3. Cleft palate.

  4. Narrow chest.

Congenital Disorder of Glycosylation Type 2g - People with this disorder show:

  1. Spaced ribs.

  2. Slow growth.

  3. Clubbed feet.

  4. Small ears.

Conclusion:

Cerebro-Costo-Mandibular syndrome is a collection of disorders occurring due to the genetic transfer of defective genes, which causes retarded or malformed bone growth and other body complications. These conditions are surgically treated to improve the babies' quality of life. Though complete treatment for curing the syndrome is not available, prevention of the syndrome is highly possible. Educating the patients about CCMS and its awareness and gene modification with genetic engineering therapy can prevent the transmission of the defective gene from the parent to the children.

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Frequently Asked Questions

The vertebral column comprises a total of twenty-four individual vertebrae, with seven located in the neck region (cervical vertebrae), twelve in the upper back (thoracic vertebrae), and five in the lower back (lumbar vertebrae). Below the lumbar region, the sacrum is formed from the fusion of five vertebrae, and the coccyx (tailbone) is formed from the fusion of four vertebrae. Therefore, the total number of bones in the vertebral column is twenty-four individual vertebrae along with the fused sacrum and coccyx, making a total of thirty-three bones.
The vertebral column has several important roles, including:
- Protection of the spinal cord.
- Structural support.
- Attachment for muscles and ligaments.
- Facilitation of movement.
- Support for ribs and pelvic girdle.
The interior of the vertebral column is hollow to accommodate and protect the spinal cord. The spinal cord is a vital part of the central nervous system that carries nerve signals between the brain and the rest of the body. The vertebral column acts as a protective housing for the delicate spinal cord, shielding it from external forces and potential injuries.
Prostate cancer  (cancer that affects the prostate in males) can spread to the vertebral column through the bloodstream or lymphatic system or by metastasizing directly onto the vertebrae. Once cancer cells reach the bones of the spine, they can grow and cause damage, leading to symptoms like bone pain and fractures.
Mandible coronoid fractures may not require surgery in cases where the fracture is stable, does not impact jaw function, presents technical challenges for surgery, or has good potential for healing with non-surgical treatments. The decision to opt for non-surgical treatment is based on factors such as the fracture pattern, patient age, overall health, and healing potential.
The mandible differs from the other bones in the human skull in the following ways:
- In the human skull, movement is possible only by the mandible. It allows for actions like opening and closing the mouth, chewing, and talking.
- Unlike the other bones in the skull, the mandible is a single bone.
- The mandible connects with the temporal bones of the skull through the temporomandibular joints, which enable jaw movements.
The spinal cord and the vertebral column have distinct characteristics. The vertebral column serves as a protective bony structure that encloses and safeguards the spinal cord. In contrast, the spinal cord is a bundle of nerves responsible for transmitting signals between the brain and the body. It runs inside the vertebral column.
It is commonly known that getting a tattoo on the rib area can be more uncomfortable compared to other parts of the body. This is because the rib cage has less muscle and fat, and the skin is closer to the bones, which can make the sensation more intense. Additionally, the ribs are located near sensitive nerve endings, which can contribute to the discomfort. However, the intensity of pain experienced during a rib tattoo can vary among individuals.
The human rib cage consists of different types of ribs, which are as follows:
- True Ribs: These ribs are directly connected to the sternum (breastbone) by cartilage, forming the front part of the rib cage. There are seven sets.
- False Ribs: These ribs do not directly attach to the sternum but instead connect to the cartilage of the rib above them. There are three sets.
- Floating Ribs: They are not connected to the sternum or the cartilage of other ribs, and instead, they only attach to the vertebrae in the back. They form the last two pairs.
Rib belts are belts (elastic) used to give support and alleviate pain involving the ribcage. Rib belts are typically worn for a few weeks to several months, depending on the severity of the injury or condition being treated. It is important to follow the advice of the doctor, who can assess the specific needs and provide appropriate instructions regarding the duration of rib belt usage.
Correcting an uneven rib cage depends on the underlying cause. After a thorough physical examination and imaging tests of the rib cage, the doctor will advise a treatment option which may include physical therapy, chiropractic care, breathing exercises, corrective braces or orthotics, or, in severe cases, surgical intervention.
The healing time for a rib fracture can vary depending on various factors, such as the location and severity of the fracture, the age and overall health of the individual, and the presence of any underlying medical conditions. Generally, it takes about six to eight weeks for a rib fracture to heal. Additionally, certain lifestyle factors like smoking and poor nutrition can also prolong the healing time.
During pregnancy, rib cage pain can be caused by factors such as the expanding uterus, hormonal changes, changes in posture, compression of the diaphragm, the baby's movement, and issues like gas and indigestion. It is a temporary condition that resolves after childbirth; however, one may consult a doctor for pain management.
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