(Q73.0) Congenital absence of unspecified limb(s)

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8 099 in individuals diagnosis congenital absence of unspecified limb(s) confirmed

Diagnosis congenital absence of unspecified limb(s) is diagnosed Men are 23.47% more likely than Women

5 000

Men receive the diagnosis congenital absence of unspecified limb(s)

0 (less than 0.1%)

Died from this diagnosis.

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95
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3 099

Women receive the diagnosis congenital absence of unspecified limb(s)

0 (less than 0.1%)

Died from this diagnosis.

Risk Group for the Disease congenital absence of unspecified limb(s) - Men aged 5-9 and Women aged 0-5

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In Men diagnosis is most often set at age 0-14, 20-24
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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+
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In Women diagnosis is most often set at age 0-19, 25-34

Disease Features congenital absence of unspecified limb(s)

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Absence or low individual and public risk
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Congenital absence of unspecified limb(s) - what does this mean

Congenital absence of unspecified limb(s) is a rare condition in which the affected person is born without one or more limbs due to a genetic defect or environmental factor. this condition can be caused by a variety of genetic and environmental factors, including chromosomal abnormalities, maternal infections, and exposure to certain medications or toxins.

What happens during the disease - congenital absence of unspecified limb(s)

Congenital absence of unspecified limb(s) is a congenital anomaly caused by abnormal development of the limb bud during gestation. this can be caused by genetic mutations, environmental factors, or a combination of both. depending on the cause, the condition may be isolated or associated with other congenital anomalies or syndromes. the diagnosis of the condition is based on the clinical presentation, imaging studies, and genetic testing. treatment focuses on improving the patient's quality of life and may include prosthetic or orthotic devices, physical and occupational therapy, and psychological support.

Clinical Pattern

More details coming soon

How does a doctor diagnose

  • Physical Examination
  • X-ray Imaging
  • Ultrasound Imaging
  • CT Scan
  • MRI Scan
  • Blood Tests
  • Genetic Testing
Additions:
  • EMG/NCV Testing
  • Bone Scan

Treatment and Medical Assistance

Main goal of the treatment: To improve the quality of life of patients with congenital absence of unspecified limb(s).
  • Provide prosthetics and orthotics to replace missing limb(s).
  • Provide physical therapy to improve mobility and strength.
  • Provide occupational therapy to help with activities of daily living.
  • Provide psychological counseling to help with adjustment to disability.
  • Provide social support to help with integration into society.
  • Provide educational support to help with learning and academic success.
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10 Days of Hospitalization Required
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Average Time for Outpatient Care Not Established

Congenital absence of unspecified limb(s) - Prevention

Prevention of congenital absence of unspecified limb(s) includes avoiding exposure to environmental toxins, providing adequate nutrition during pregnancy, and seeking medical advice if there is a family history of the condition.