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(Q75.1) Craniofacial dysostosis
More details coming soon
176 216 in individuals diagnosis craniofacial dysostosis confirmed
1 717 deaths with diagnosis craniofacial dysostosis
1% mortality rate associated with the disease craniofacial dysostosis
Diagnosis craniofacial dysostosis is diagnosed Men are 37.25% more likely than Women
120 927
Men receive the diagnosis craniofacial dysostosis
821 (0.7 %)Died from this diagnosis.
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55 289
Women receive the diagnosis craniofacial dysostosis
896 (1.6 %)Died from this diagnosis.
Risk Group for the Disease craniofacial dysostosis - Men and Women aged 0
In Men diagnosis is most often set at age 0-44, 55-64, 70-74
Less common in men the disease occurs at Age 45-54, 65-69, 75-95+Less common in women the disease occurs at Age 40-59, 65-95+
In Women diagnosis is most often set at age 0-39, 60-64
Disease Features craniofacial dysostosis
Absence or low individual and public risk
Craniofacial dysostosis - what does this mean
Craniofacial dysostosis is a genetic disorder that affects the development of the skull and facial bones. it is caused by a mutation in the fgfr2 gene and is characterized by abnormal growth of the skull and facial bones, resulting in a wide variety of craniofacial deformities. these can include a wide-set eyes, a flat nasal bridge, a cleft lip or palate, and an abnormally shaped head.
What happens during the disease - craniofacial dysostosis
Craniofacial dysostosis is a genetic disorder caused by a mutation in the genes responsible for the development of the face and skull. this mutation affects the development of the bones and tissues of the face and skull resulting in characteristic craniofacial deformities such as an underdeveloped or abnormally shaped face, skull, and jaw. this can lead to an array of other physical and medical complications, such as hearing and vision problems, feeding difficulties, and respiratory problems.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination of the face and skull
- Neurological evaluation
- X-Ray of the skull to assess the bone structure
- CT scan to assess the facial bone structure and soft tissue
- MRI to assess the brain structure, size and shape
- Genetic testing to identify any underlying genetic abnormalities
- Audiometric evaluation to assess hearing
- Ophthalmologic evaluation to assess vision
- Dental evaluation to assess the teeth and jaw structure
- Speech evaluation to assess speech development and articulation
Treatment and Medical Assistance
Main goal: To treat Craniofacial dysostosis
- Perform a physical examination to assess the severity of the condition.
- Order diagnostic tests such as X-rays, CT scans, and MRIs to determine the extent of the abnormality.
- Consult with a geneticist to determine the cause of the condition.
- Refer to a plastic surgeon or orthodontist for corrective surgery.
- Prescribe medications to reduce inflammation and pain.
- Provide physical therapy to improve mobility.
- Refer to a psychologist to help the patient cope with the condition.
- Refer to a speech therapist to help improve communication skills.
- Refer to an occupational therapist to help with daily tasks.
- Provide counseling and support to the patient and family.
10 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Craniofacial dysostosis - Prevention
The best way to prevent craniofacial dysostosis is to maintain a healthy lifestyle and ensure that pregnant women receive regular prenatal care. women should also be aware of the signs and symptoms of craniofacial dysostosis, which can include facial and skull deformities. additionally, genetic counseling should be sought out if there is a family history of the condition.