What are the other Names for this Condition? (Also known as/Synonyms)
- Bone Fragility with Craniosynostosis, Ocular Proptosis, Hydrocephalus, and Distinctive Facial Features
What is Cole Carpenter Syndrome? (Definition/Background Information)
- Cole-Carpenter syndrome is an extremely rare form of bone dysplasia
- It is characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera
- Additionally, the association of growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia) may be noted
(Source: Cole-Carpenter Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)
Who gets Cole Carpenter Syndrome? (Age and Sex Distribution)
- Cole Carpenter Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
- Both males and females may be affected
- Worldwide, individuals of all racial and ethnic groups may be affected
What are the Risk Factors for Cole Carpenter Syndrome? (Predisposing Factors)
- Currently, no risk factors have been clearly identified for Cole Carpenter Syndrome
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What are the Causes of Cole Carpenter Syndrome? (Etiology)
The exact cause of development of Cole Carpenter Syndrome is presently unknown.
What are the Signs and Symptoms of Cole Carpenter Syndrome?
The signs and symptoms of Cole Carpenter Syndrome may include:
- Coronal craniosynostosis
- High pitched voice
- Orbital craniosynostosis
- Shallow orbits
- Vertebral compression fractures
Very frequently present symptoms in 80-99% of the cases:
- Abnormal form of the vertebral bodies
- Abnormality of the metaphysis
- Abnormality of the ribs
- Abnormality of the voice
- Blue sclerae
- Bowing of the long bones
- Crumpled long bones
- Delayed eruption of teeth
- Frontal bossing
- Midface retrusion
- Skeletal dysplasia
Frequently present symptoms in 30-79% of the cases:
Occasionally present symptoms in 5-29% of the cases:
- Downslanted palpebral fissures
- Joint hyperflexibility
(Source: Cole Carpenter Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)
How is Cole Carpenter Syndrome Diagnosed?
Cole Carpenter Syndrome is diagnosed on the basis of the following information:
- Complete physical examination
- Thorough medical history evaluation
- Assessment of signs and symptoms
- Laboratory tests
- Imaging studies
- Biopsy studies, if necessary
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
What are the possible Complications of Cole Carpenter Syndrome?
The complications of Cole Carpenter Syndrome may include:
- Severe skeletal abnormalities
- Walking difficulties
- Frequent fractures due to weak bones
Complications may occur with or without treatment, and in some cases, due to treatment also.
How is Cole Carpenter Syndrome Treated?
Presently, there is no cure for Cole Carpenter Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develops.
How can Cole Carpenter Syndrome be Prevented?
- Currently, Cole Carpenter Syndrome may not be preventable, since the cause of this disorder is unknown
- Regular medical screening at periodic intervals with tests and physical examinations are recommended
What is the Prognosis of Cole Carpenter Syndrome? (Outcomes/Resolutions)
- The prognosis of Cole Carpenter Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
- Individuals with mild conditions have better prognosis than those with severe symptoms and complications
- Typically, the prognosis may be assessed on a case-by-case basis
Additional and Relevant Useful Information for Cole Carpenter Syndrome:
The following DoveMed website link is a useful resource for additional information: