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(Q71.1) Congenital absence of upper arm and forearm with hand present
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49 478 in individuals diagnosis congenital absence of upper arm and forearm with hand present confirmed
Diagnosis congenital absence of upper arm and forearm with hand present is diagnosed Men are 12.63% more likely than Women
27 863
Men receive the diagnosis congenital absence of upper arm and forearm with hand present
0 (less than 0.1%)Died from this diagnosis.
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21 615
Women receive the diagnosis congenital absence of upper arm and forearm with hand present
0 (less than 0.1%)Died from this diagnosis.
Risk Group for the Disease congenital absence of upper arm and forearm with hand present - Men and Women aged 0-5
In Men diagnosis is most often set at age 0-24, 35-44
Less common in men the disease occurs at Age 25-34, 45-95+Less common in women the disease occurs at Age 45-49, 60-79, 85-95+
In Women diagnosis is most often set at age 0-44, 50-59, 80-84
Disease Features congenital absence of upper arm and forearm with hand present
Absence or low individual and public risk
Congenital absence of upper arm and forearm with hand present - what does this mean
Congenital absence of upper arm and forearm with hand present is a rare congenital disorder in which the upper arm and forearm are missing, but the hand is present. this disorder is caused by a genetic mutation that affects the development of the upper arm and forearm during the embryonic stage.
What happens during the disease - congenital absence of upper arm and forearm with hand present
Congenital absence of upper arm and forearm with hand present is caused by a disruption of the development of the limb during the early stages of fetal development. this disruption could be due to genetic mutations, environmental factors, or a combination of both. as the limb develops, the normal pattern of development is disrupted, leading to the absence of the upper arm and forearm with the hand still present.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical exam to assess the presence of upper arm and forearm
- X-ray imaging to confirm the absence of the upper arm and forearm
- CT scan to check for any underlying bone or tissue anomalies
- Genetic testing to identify any genetic abnormalities
- Ultrasound to check for any soft tissue abnormalities
- MRI to evaluate the structure of the hand
Treatment and Medical Assistance
Main Goal: Treating Congenital Absence of Upper Arm and Forearm with Hand Present
- Physical therapy to improve range of motion and strength
- Occupational therapy to learn how to use the hand and tools
- Splinting to maintain hand position and improve function
- Surgery to correct any deformities
- Adaptive equipment to help with daily activities
- Counseling to help with any emotional issues
8 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Congenital absence of upper arm and forearm with hand present - Prevention
The best way to prevent congenital absence of the upper arm and forearm with the hand present is to ensure that pregnant women are receiving proper prenatal care, including regular check-ups and ultrasounds. additionally, pregnant women should be taking folic acid supplements to reduce the risk of birth defects.