ICD-10: Q72.23

Congenital absence of both lower leg and foot, bilateral

Additional Information

Approximate Synonyms

The ICD-10 code Q72.23 refers to the congenital absence of both lower legs and feet, specifically on a bilateral basis. This condition is part of a broader category of limb deficiencies and can be described using various alternative names and related terms. Below are some of the most relevant terms associated with this condition:

Alternative Names

  1. Bilateral Congenital Amputation of Lower Legs and Feet: This term emphasizes the absence of the limbs due to congenital factors.
  2. Bilateral Congenital Limb Deficiency: A broader term that encompasses various types of limb deficiencies, including the absence of limbs.
  3. Congenital Bilateral Lower Limb Deficiency: This term highlights the congenital nature and specifies that both lower limbs are affected.
  4. Congenital Absence of Bilateral Lower Extremities: A more technical term that refers to the absence of both lower extremities.
  1. Amelia: A general term for the complete absence of one or more limbs, which can include cases like Q72.23.
  2. Limb Deficiency: A broader category that includes various types of limb absence or malformation, including congenital conditions.
  3. Congenital Anomaly: A term that refers to any structural abnormality present at birth, which can include limb deficiencies.
  4. Lower Limb Congenital Defects: This term encompasses a range of congenital issues affecting the lower limbs, including absence and malformations.

Clinical Context

Understanding these alternative names and related terms is crucial for healthcare professionals when diagnosing, coding, and discussing congenital limb deficiencies. Accurate terminology ensures effective communication among medical practitioners and aids in the classification of conditions for treatment and research purposes.

In summary, the ICD-10 code Q72.23 can be described using various alternative names and related terms that reflect its clinical significance and the nature of the condition. These terms are essential for accurate medical documentation and communication within the healthcare system.

Description

The ICD-10 code Q72.23 refers to the condition known as "Congenital absence of both lower leg and foot, bilateral." This diagnosis is categorized under congenital anomalies, specifically those affecting the limbs. Below is a detailed clinical description and relevant information regarding this condition.

Clinical Description

Definition

Congenital absence of both lower leg and foot, bilateral (Q72.23) is a congenital limb deficiency characterized by the complete absence of both lower legs and feet at birth. This condition is classified as a severe form of limb deficiency, which can significantly impact mobility and overall quality of life.

Etiology

The exact cause of congenital limb deficiencies, including Q72.23, is often multifactorial. Potential contributing factors may include genetic predispositions, environmental influences during pregnancy (such as teratogenic exposures), and maternal health conditions. However, in many cases, the specific cause remains unknown.

Clinical Features

  • Physical Examination: Infants with this condition will present with the absence of both lower legs and feet. The upper limbs are typically unaffected, but associated anomalies may occur.
  • Associated Anomalies: It is not uncommon for congenital limb deficiencies to be associated with other congenital anomalies, which may involve other systems such as the musculoskeletal, cardiovascular, or gastrointestinal systems.
  • Functional Implications: The absence of lower legs and feet can lead to significant challenges in mobility. Affected individuals may require assistive devices, such as wheelchairs or prosthetics, to enhance mobility and independence.

Diagnosis

Diagnostic Criteria

Diagnosis of Q72.23 is primarily based on clinical evaluation and physical examination. Imaging studies, such as X-rays or ultrasounds, may be utilized to confirm the absence of the lower limbs and to assess for any associated anomalies.

Differential Diagnosis

It is essential to differentiate this condition from other types of limb deficiencies, such as:
- Amelia: Complete absence of a limb or limbs.
- Phocomelia: Severe shortening of the limbs, which may still be present but malformed.
- Transverse limb deficiency: Where a limb is present but absent beyond a certain point.

Management

Treatment Options

Management of congenital absence of both lower leg and foot typically involves a multidisciplinary approach, including:
- Prosthetic Fitting: Early intervention with prosthetics can help improve mobility and independence.
- Physical Therapy: Rehabilitation services are crucial for developing strength, balance, and coordination.
- Surgical Interventions: In some cases, surgical options may be considered to improve function or to address associated anomalies.

Long-term Considerations

Individuals with Q72.23 may face ongoing challenges related to mobility and may require lifelong support and adaptations. Regular follow-up with healthcare providers is essential to monitor development and address any emerging needs.

Conclusion

Congenital absence of both lower leg and foot, bilateral (Q72.23) is a significant congenital anomaly that requires comprehensive care and support. Early diagnosis and intervention can greatly enhance the quality of life for affected individuals, enabling them to achieve greater independence and mobility. As with many congenital conditions, a tailored approach that considers the unique needs of each patient is vital for optimal outcomes.

Clinical Information

Congenital absence of both lower leg and foot, bilateral, is classified under ICD-10 code Q72.23. This condition is a specific type of limb deficiency that presents unique clinical characteristics and implications for affected individuals. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with this condition.

Clinical Presentation

Congenital absence of both lower leg and foot, bilateral, is characterized by the complete absence of the lower legs and feet from birth. This condition is typically identified at birth or during routine prenatal imaging. The severity of the absence can vary, but in the case of bilateral absence, both limbs are affected symmetrically.

Signs and Symptoms

  1. Physical Examination Findings:
    - Absence of Lower Legs and Feet: The most prominent sign is the complete absence of the lower legs and feet, which can be visually assessed at birth.
    - Proximal Limb Development: The upper parts of the legs (thighs) may be present and can vary in size and development. In some cases, the thighs may be underdeveloped or have normal morphology.
    - Muscle Tone and Strength: Infants may exhibit varying degrees of muscle tone in the proximal muscles, which can affect mobility and function.

  2. Associated Anomalies:
    - Congenital limb deficiencies can be associated with other congenital anomalies, including those affecting the spine, pelvis, or other organ systems. A thorough evaluation is necessary to identify any coexisting conditions.

  3. Functional Implications:
    - Mobility Challenges: The absence of lower legs and feet significantly impacts mobility. Affected individuals may require assistive devices or prosthetics for ambulation.
    - Developmental Delays: Depending on the presence of other anomalies and the interventions provided, there may be developmental delays in gross motor skills.

Patient Characteristics

  1. Demographics:
    - This condition can occur in any demographic group, but the incidence may vary based on genetic and environmental factors. It is essential to consider family history and potential teratogenic exposures during pregnancy.

  2. Genetic Factors:
    - Congenital limb deficiencies, including bilateral absence of the lower legs and feet, can have genetic components. Genetic counseling may be beneficial for families, especially if there is a history of limb deficiencies or other congenital conditions.

  3. Psychosocial Considerations:
    - Individuals with congenital limb deficiencies may face psychosocial challenges, including body image issues and social integration difficulties. Early intervention and support from healthcare professionals, including physical and occupational therapists, can help address these concerns.

Conclusion

Congenital absence of both lower leg and foot, bilateral (ICD-10 code Q72.23), is a significant congenital condition that requires comprehensive clinical evaluation and management. Early diagnosis and intervention are crucial for optimizing functional outcomes and supporting the psychosocial well-being of affected individuals. Multidisciplinary care involving pediatricians, orthopedic specialists, physical therapists, and psychologists can provide a holistic approach to treatment and support for patients and their families.

Diagnostic Criteria

The ICD-10 code Q72.23 refers to the congenital absence of both lower legs and feet, classified under congenital limb deficiencies. Diagnosing this condition involves a combination of clinical evaluation, imaging studies, and adherence to specific diagnostic criteria. Below is a detailed overview of the criteria and processes typically used for diagnosis.

Clinical Evaluation

Medical History

  • Family History: A thorough family history is essential to identify any genetic predispositions or patterns of congenital anomalies.
  • Prenatal History: Information regarding maternal health during pregnancy, including exposure to teratogens, infections, or other risk factors, can provide context for the diagnosis.

Physical Examination

  • Visual Inspection: A physical examination is conducted to assess the presence or absence of the lower legs and feet. This includes evaluating the overall limb structure and any associated anomalies.
  • Symmetry and Functionality: The clinician will also assess the symmetry of the limbs and any functional limitations that may arise from the absence of the lower legs and feet.

Imaging Studies

Ultrasound

  • Prenatal Ultrasound: In many cases, congenital limb deficiencies can be detected during routine prenatal ultrasounds. The absence of lower legs and feet may be visible, prompting further investigation.

Postnatal Imaging

  • X-rays or MRI: After birth, imaging studies such as X-rays or MRI may be utilized to confirm the diagnosis and assess any associated skeletal anomalies or other congenital conditions.

Diagnostic Criteria

ICD-10 Guidelines

  • The diagnosis of Q72.23 is based on the criteria set forth in the ICD-10 coding manual, which specifies that the absence of both lower legs and feet must be congenital, meaning it is present at birth and not acquired later in life[1][3].

Associated Conditions

  • Exclusion of Other Conditions: It is crucial to rule out other conditions that may mimic the absence of limbs, such as amelia (complete absence of a limb) or transverse limb deficiencies. The clinician must ensure that the diagnosis is specific to the bilateral absence of both lower legs and feet.

Conclusion

The diagnosis of congenital absence of both lower legs and feet (ICD-10 code Q72.23) involves a comprehensive approach that includes medical history, physical examination, imaging studies, and adherence to ICD-10 diagnostic criteria. Early diagnosis is essential for planning appropriate interventions and support for affected individuals. If you have further questions or need more specific information, feel free to ask!

Treatment Guidelines

Congenital absence of both lower leg and foot, bilateral, is classified under ICD-10 code Q72.23. This condition, often referred to as bilateral congenital amputation of the lower legs, presents unique challenges and requires a multidisciplinary approach for effective management and treatment. Below, we explore standard treatment approaches for this condition.

Understanding Congenital Absence of Lower Legs and Feet

Congenital absence of limbs can occur due to various factors, including genetic predispositions and environmental influences during pregnancy. In the case of Q72.23, the absence of both lower legs and feet significantly impacts mobility, development, and overall quality of life. Early intervention is crucial to optimize outcomes for affected individuals.

Standard Treatment Approaches

1. Multidisciplinary Assessment

A comprehensive evaluation by a team of healthcare professionals is essential. This team typically includes:

  • Pediatricians: To monitor overall health and development.
  • Orthopedic Surgeons: To assess any associated skeletal abnormalities and discuss surgical options if necessary.
  • Physical Therapists: To develop a tailored rehabilitation program focusing on mobility and strength.
  • Occupational Therapists: To assist with daily living activities and adaptive techniques.

2. Prosthetic Fitting and Rehabilitation

Prosthetic devices play a crucial role in enhancing mobility for individuals with congenital limb absence. The process involves:

  • Prosthetic Evaluation: Early fitting of prosthetics can begin as soon as the child is developmentally ready, often around the age of 1 to 2 years.
  • Custom Prosthetics: Prosthetic limbs are tailored to the individual’s needs, considering factors such as age, activity level, and growth.
  • Rehabilitation Programs: Ongoing physical therapy is essential to help the child adapt to the prosthetics, improve balance, and develop walking skills.

3. Surgical Interventions

In some cases, surgical options may be considered to improve function or facilitate prosthetic fitting. These may include:

  • Limb Lengthening Procedures: If there is some residual limb, surgical techniques can be employed to lengthen the limb, allowing for better prosthetic fitting.
  • Bone Anchored Prosthetics: In specific cases, surgical implantation of devices that anchor prosthetics directly to the bone may be an option, providing improved stability and function.

4. Psychosocial Support

Addressing the emotional and psychological aspects of living with congenital limb absence is vital. Support services may include:

  • Counseling: Individual or family counseling can help address emotional challenges and promote coping strategies.
  • Support Groups: Connecting with others who have similar experiences can provide valuable emotional support and practical advice.

5. Educational Support

Children with congenital limb absence may require additional support in educational settings. This can include:

  • Individualized Education Plans (IEPs): Tailored educational strategies to accommodate physical limitations and promote learning.
  • Assistive Technology: Tools and devices that facilitate learning and participation in school activities.

Conclusion

The management of congenital absence of both lower leg and foot, bilateral (ICD-10 code Q72.23), requires a comprehensive, multidisciplinary approach that addresses medical, physical, and psychosocial needs. Early intervention, including prosthetic fitting and rehabilitation, is crucial for optimizing mobility and enhancing the quality of life for affected individuals. Ongoing support from healthcare professionals, educators, and family members plays a significant role in helping individuals navigate the challenges associated with this condition.

Related Information

Approximate Synonyms

  • Bilateral Congenital Amputation
  • Congenital Bilateral Limb Deficiency
  • Congenital Absence Lower Extremities
  • Amelia
  • Limb Deficiency
  • Congenital Anomaly
  • Lower Limb Defects

Description

  • Congenital limb deficiency
  • Complete absence of both lower legs and feet
  • Significant impact on mobility and quality of life
  • Associated with other congenital anomalies
  • Requires assistive devices for mobility
  • Early intervention with prosthetics is crucial
  • Multidisciplinary management approach

Clinical Information

  • Complete absence of lower legs and feet from birth
  • Typically identified at birth or prenatal imaging
  • Symmetrical bilateral absence
  • Variable proximal limb development
  • Muscle tone and strength vary
  • Associated anomalies possible, e.g., spine, pelvis
  • Significant mobility challenges
  • Possible developmental delays in gross motor skills

Diagnostic Criteria

  • Congenital absence of both lower legs
  • Absence of feet present at birth
  • Exclusion of other conditions like amelia
  • Ruling out transverse limb deficiencies
  • ICD-10 specifies congenital absence only
  • No acquired loss or damage to limbs

Treatment Guidelines

  • Multidisciplinary assessment by healthcare team
  • Early prosthetic fitting around age 1-2 years
  • Customized prosthetics considering individual needs
  • Ongoing physical therapy for adaptation and mobility
  • Surgical interventions for limb lengthening or bone anchoring
  • Psychosocial support through counseling and support groups
  • Individualized education plans for educational support

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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.