Name of the Condition

• Congenital Absence of Both Forearm and Hand, Unspecified Upper Limb
• Anomaly, Limblessness

Summary

• Congenital absence of both the forearm and hand in one or both upper limbs is a birth defect where a child is born without these extremities. This condition is part of a group of limb reduction defects and can affect a child's ability to perform everyday tasks.

Causes

• The exact causes are often unknown but may involve genetic factors or environmental influences during pregnancy. Some cases are associated with chromosomal abnormalities or teratogenic exposures.

Risk Factors

• Increased risk may be linked to genetic predispositions, maternal illnesses, certain medications during pregnancy, and environmental factors such as exposure to harmful substances.

Symptoms

• Absence of the forearm and hand at birth. Visual observation is the primary symptom as the extremity is missing.

Diagnosis

• Diagnosis is typically made at birth through physical examination. Prenatal imaging, such as ultrasounds, can sometimes detect limb abnormalities before birth.

Treatment Options

• Management includes prosthetics to aid functionality, occupational therapy to enhance skills using available limbs, and possibly surgical interventions to improve limb stump functionality.

Prognosis and Follow-Up

• With modern prosthetics and therapeutic interventions, individuals can lead fulfilling lives. Regular follow-up is necessary to adjust prosthetics and therapies as the child grows.

Complications

• Without proper management, the condition can lead to challenges with mobility and self-care, potentially leading to reduced independence.

Lifestyle & Prevention

• There is no guaranteed way to prevent congenital limb absence; however, pregnant individuals should maintain a healthy lifestyle and avoid harmful substances to minimize risks.

When to Seek Professional Help

• Immediate help should be sought if there are concerns about a child’s development or if the absence affects the quality of life or ability to perform daily tasks.

Additional Resources

• American Association of Orthopaedic Surgeons (orthoinfo.aaos.org)
• National Organization for Rare Disorders (rarediseases.org).

Tips for Medical Coders

• Ensure accurate use of the ICD code Q71.20 by verifying the documentation specifies congenital absence in an unspecified upper limb.
• Avoid confusion with similar codes that specify different limb involvements.