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(Q73.1) Phocomelia, unspecified limb(s)
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8 099 in individuals diagnosis phocomelia, unspecified limb(s) confirmed
Diagnosis phocomelia, unspecified limb(s) is diagnosed Men are 23.47% more likely than Women
5 000
Men receive the diagnosis phocomelia, unspecified limb(s)
0 (less than 0.1%)Died from this diagnosis.
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3 099
Women receive the diagnosis phocomelia, unspecified limb(s)
0 (less than 0.1%)Died from this diagnosis.
Risk Group for the Disease phocomelia, unspecified limb(s) - Men aged 5-9 and Women aged 0-5
In Men diagnosis is most often set at age 0-14, 20-24
Less common in men the disease occurs at Age 15-19, 25-95+Less common in women the disease occurs at Age 20-24, 35-95+
In Women diagnosis is most often set at age 0-19, 25-34
Disease Features phocomelia, unspecified limb(s)
Absence or low individual and public risk
Phocomelia, unspecified limb(s) - what does this mean
Phocomelia is a rare congenital disorder caused by a disruption in embryonic development that results in the malformation of the limbs. it is characterized by the absence of some or all of the bones in the arms and legs, resulting in short, stubby limbs.
What happens during the disease - phocomelia, unspecified limb(s)
Phocomelia is a rare congenital disorder characterized by the absence of one or more limbs due to malformation of the developing limb buds during the first trimester of pregnancy. it is believed to be caused by a combination of genetic and environmental factors, including exposure to certain drugs, radiation, and viruses. in some cases, the cause may be unknown.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination of affected limb(s)
- X-rays of affected limb(s)
- Ultrasound of affected limb(s)
- MRI of affected limb(s)
- CT scan of affected limb(s)
- Genetic testing
- Blood tests
- Urine tests
Treatment and Medical Assistance
Main Goal: To treat the symptoms of Phocomelia, unspecified limb(s).
- Prescribe physical therapy to strengthen and improve range of motion of affected limb(s).
- Advise use of assistive devices such as orthoses and prostheses to improve mobility.
- Refer to a specialist for reconstructive surgery to improve limb function.
- Provide counseling to patient and family to help cope with the condition.
- Prescribe medications to reduce pain and inflammation.
- Recommend lifestyle changes such as exercise and healthy diet.
10 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Phocomelia, unspecified limb(s) - Prevention
The best way to prevent phocomelia, unspecified limb(s) is to ensure that pregnant women receive proper prenatal care, including adequate nutrition, regular monitoring of fetal development, and avoiding exposure to harmful substances such as alcohol, tobacco, certain medications, and radiation.