Meet Rami: Checking off Milestones after Highly Rare CCMS Diagnosis | Cincinnati Children’s Hospital
Cerebrocostomandibular syndrome (CCMS) is a rare genetic disorder that affects the jaw and the ribs which can lead to breathing and feeding problems, developmental delays, hearing loss, and other issues.
In severe cases, breathing problems can be life-threatening, and babies with CCMS often need surgery to treat their symptoms. CCMS is caused by a change in a particular gene, the SNRPB gene, and most cases occur in babies with no family history of the condition.
Prevalence of CCMS
It is very uncommon and affects only a small number of individuals worldwide; therefore, the exact frequency is not well documented.
Symptoms of CCMS
The symptoms of CCMS differ in their occurrence and severity and may include:
- Microcephaly (small head size)
- A small jaw (micrognathia) and a cleft palate
- Missing ribs or gaps in the ribs, especially near the spine
- Narrow rib cage, which can cause breathing difficulties
- Scoliosis (curved spine), which usually develops in childhood
- Developmental delays and, in some cases, intellectual disability
- Hearing loss, due to atresia of the external ear canal
- Other complications may involve the stomach, heart, kidneys, and urinary system
Causes of CCMS
CCMS is caused by a change (variant) in the SNRPB gene. These changes often occur sporadically, also known as a “de novo” change. It can also be inherited from a parent who has CCMS. In some rare cases, a parent might carry the gene change without showing symptoms.
Diagnosis
Symptoms of this condition may start to appear during pregnancy and as a newborn.
CCMS is often diagnosed in the first year of life through physical examination and imaging tests like X-rays. Genetic testing can confirm the diagnosis and help parents understand the recurrence risk for future children.
Treatment
Treatment for CCMS focuses on managing symptoms. Infants may need breathing support, feeding tubes, and surgeries to help with jaw or chest problems. The Vertical Expandable Prosthetic Titanium Rib (VEPTR) may be used to help expand the chest and improve breathing. Hearing aids and therapies like speech or special education can help children with developmental delays. Genetic counseling is recommended for families to understand the condition and its risks.
Prognosis
Historically, the condition has been associated with a high risk of mortality within the first year of life, primarily due to respiratory difficulties, feeding problems, and other complications related to underdeveloped or malformed structures.
However, advancements in medical care and support for these conditions have improved survival rates, and some children diagnosed with CCMS have lived beyond the first year, depending on the severity of their symptoms and the types of care they receive.
For those who survive past infancy, the quality of life and longevity can still vary. Some individuals may require ongoing medical care, therapies, or surgeries to address the physical challenges caused by CCMS. In some cases, with appropriate medical management, individuals can lead full lives, although they may have some limitations due to the physical and developmental impacts of the syndrome. Ultimately, each child is unique, and survival and quality of life are influenced by many factors.
Provided by: Cincinnati Children’s Hospital