ICD-10: Q71.33

Congenital absence of hand and finger, bilateral

Additional Information

Approximate Synonyms

The ICD-10 code Q71.33 refers specifically to the congenital absence of hand and finger on both sides (bilateral). This condition is classified under congenital malformations of the limbs. Here are some alternative names and related terms associated with this diagnosis:

Alternative Names

  1. Bilateral Congenital Amputation of Hand and Fingers: This term emphasizes the absence of the hand and fingers due to congenital reasons.
  2. Bilateral Upper Limb Congenital Deficiency: A broader term that includes any congenital absence or underdevelopment of the upper limbs.
  3. Bilateral Hand and Finger Agenesis: Agenesis refers to the absence of an organ or body part due to developmental failure.
  4. Bilateral Hand and Finger Malformation: This term can be used to describe any structural abnormalities in the hands and fingers, including complete absence.
  1. Congenital Limb Deficiency: A general term for any congenital condition resulting in the absence or underdevelopment of limbs.
  2. Congenital Upper Limb Defects: This encompasses a range of congenital anomalies affecting the upper limbs, including the absence of hands and fingers.
  3. Phocomelia: A condition where the limbs are severely shortened or absent, which can sometimes include the absence of hands and fingers.
  4. Ectrodactyly: A condition characterized by the absence of one or more digits, which may be related but is not specific to the bilateral absence of hands and fingers.

Clinical Context

Understanding these alternative names and related terms is crucial for healthcare professionals when diagnosing and coding congenital conditions. Accurate coding ensures proper documentation and facilitates appropriate treatment planning and resource allocation for affected individuals.

In summary, the ICD-10 code Q71.33 is associated with various terms that reflect the condition's nature and implications. These terms can be useful in clinical discussions, research, and when communicating with patients and families about the diagnosis.

Description

The ICD-10 code Q71.33 refers to the clinical condition known as "Congenital absence of hand and finger, bilateral." This condition is classified under the broader category of congenital malformations of the limbs, specifically affecting the hands and fingers.

Clinical Description

Definition

Congenital absence of hand and finger, bilateral, indicates that both hands are affected by the absence of one or more fingers or the entire hand. This condition is present at birth and results from developmental anomalies during gestation.

Etiology

The exact cause of congenital absence of hands and fingers can vary. It may arise from genetic factors, environmental influences, or a combination of both. Some potential contributing factors include:

  • Genetic Mutations: Certain genetic syndromes can lead to limb malformations, including the absence of hands and fingers.
  • Teratogenic Factors: Exposure to harmful substances during pregnancy, such as drugs, alcohol, or infections, may disrupt normal limb development.
  • Vascular Issues: Insufficient blood supply to the developing limbs can result in congenital limb deficiencies.

Clinical Features

Patients with bilateral congenital absence of hands and fingers may present with:

  • Absence of Hands: Complete or partial absence of one or both hands.
  • Absence of Fingers: Missing fingers on both hands, which may vary in number and configuration.
  • Associated Anomalies: Other congenital anomalies may be present, including those affecting the upper limbs, lower limbs, or other body systems.

Diagnosis

Diagnosis is typically made through:

  • Physical Examination: A thorough examination at birth can reveal the absence of hands and fingers.
  • Imaging Studies: X-rays or ultrasound may be used to assess the extent of limb absence and to check for associated anomalies.

Management

Management of this condition is multidisciplinary and may include:

  • Surgical Interventions: In some cases, reconstructive surgery may be considered to improve function or appearance.
  • Prosthetics: The use of prosthetic devices can enhance mobility and functionality for individuals with absent hands.
  • Rehabilitation Services: Occupational therapy can help individuals adapt to their condition and develop skills for daily living.

Conclusion

Congenital absence of hand and finger, bilateral (ICD-10 code Q71.33), is a significant congenital condition that requires comprehensive care and support. Early diagnosis and intervention can greatly improve the quality of life for affected individuals, enabling them to adapt and thrive despite their challenges. Understanding the clinical aspects and management options is crucial for healthcare providers working with affected patients and their families.

Clinical Information

Congenital absence of hand and finger, bilateral, is classified under ICD-10 code Q71.33. This condition is part of a broader category of congenital limb malformations, which can significantly impact an individual's functional abilities and quality of life. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with this condition.

Clinical Presentation

Congenital absence of hand and finger, bilateral, refers to the complete absence of both hands and fingers at birth. This condition can vary in severity and may be associated with other congenital anomalies. The clinical presentation typically includes:

  • Absence of Hands and Fingers: The most prominent feature is the complete lack of both hands and fingers, which can be visually assessed at birth.
  • Associated Limb Anomalies: In some cases, there may be other limb deformities, such as shortened forearms or abnormal positioning of the arms.
  • Other Congenital Anomalies: Patients may present with additional congenital conditions affecting other systems, such as cardiac, renal, or craniofacial anomalies, which are important to assess during the clinical evaluation.

Signs and Symptoms

The signs and symptoms of congenital absence of hand and finger, bilateral, primarily revolve around the physical absence of the limbs. However, the implications of this condition can lead to various challenges, including:

  • Functional Limitations: The absence of hands and fingers can severely limit the ability to perform daily activities, affecting self-care, mobility, and independence.
  • Psychosocial Impact: Patients may experience psychological challenges, including low self-esteem, social isolation, or anxiety, particularly as they grow older and become more aware of their differences.
  • Developmental Delays: Depending on the presence of associated conditions, some children may experience delays in motor skills and other developmental milestones.

Patient Characteristics

Patients with congenital absence of hand and finger, bilateral, may exhibit a range of characteristics, including:

  • Demographics: This condition can affect individuals of any gender or ethnicity, although some studies suggest a slightly higher prevalence in males.
  • Family History: A family history of congenital anomalies may be present, indicating a potential genetic component. Genetic counseling may be beneficial for affected families.
  • Associated Syndromes: Some patients may be diagnosed with syndromes that include limb malformations, such as Holt-Oram syndrome or VACTERL association, which can influence management and prognosis.

Conclusion

Congenital absence of hand and finger, bilateral (ICD-10 code Q71.33), is a significant congenital condition that presents with the absence of both hands and fingers, leading to various functional and psychosocial challenges. Early intervention, including occupational therapy and psychosocial support, is crucial for improving the quality of life for affected individuals. Comprehensive evaluation for associated anomalies is also essential to provide holistic care and support.

Treatment Guidelines

Congenital absence of hand and finger, bilateral, classified under ICD-10 code Q71.33, presents unique challenges and requires a multidisciplinary approach for effective management and treatment. This condition, often referred to as bilateral congenital limb deficiency, can significantly impact a child's development, functionality, and psychosocial well-being. Below, we explore standard treatment approaches for this condition.

Initial Assessment and Diagnosis

The first step in managing congenital absence of hand and finger is a comprehensive assessment. This typically involves:

  • Clinical Evaluation: A thorough physical examination to assess the extent of limb deficiency and any associated anomalies.
  • Imaging Studies: X-rays or MRI scans may be utilized to evaluate the underlying bone structure and any potential complications.
  • Genetic Counseling: Since congenital limb deficiencies can be associated with genetic syndromes, genetic counseling may be recommended to understand the etiology and recurrence risks.

Multidisciplinary Treatment Team

A coordinated approach involving various specialists is crucial for optimal management. The treatment team may include:

  • Pediatricians: To monitor overall health and development.
  • Orthopedic Surgeons: For surgical interventions if necessary, such as limb reconstruction or prosthetic fitting.
  • Physical and Occupational Therapists: To develop motor skills and promote independence through adaptive techniques and exercises.
  • Psychologists or Social Workers: To provide emotional support and counseling for the child and family.

Treatment Approaches

1. Prosthetic Fitting

Prosthetics play a vital role in enhancing functionality and independence for children with bilateral congenital absence of hands and fingers. Key considerations include:

  • Custom Prosthetics: Tailored to the child's specific needs, these devices can help with daily activities and improve quality of life.
  • Adaptive Devices: Tools and equipment that assist in tasks such as eating, writing, and playing can be integrated into the child's routine.

2. Surgical Interventions

In some cases, surgical options may be considered to improve function or aesthetics:

  • Limb Reconstruction: Procedures to create a more functional limb structure may be performed, depending on the individual case.
  • Bone Lengthening: Techniques such as distraction osteogenesis can be used to lengthen existing bones if applicable.

3. Rehabilitation Services

Rehabilitation is essential for maximizing the child's potential:

  • Physical Therapy: Focuses on improving strength, coordination, and mobility. Therapists may use play-based activities to engage children effectively.
  • Occupational Therapy: Aims to enhance fine motor skills and promote independence in daily living activities.

4. Psychological Support

Addressing the emotional and psychological aspects of living with a congenital condition is crucial:

  • Counseling: Individual or family therapy can help manage feelings of frustration, anxiety, or social challenges.
  • Support Groups: Connecting with other families facing similar challenges can provide valuable emotional support and resources.

Conclusion

The management of congenital absence of hand and finger, bilateral (ICD-10 code Q71.33), requires a comprehensive, multidisciplinary approach tailored to the individual needs of the child. Early intervention, including prosthetic fitting, surgical options, rehabilitation services, and psychological support, can significantly enhance the quality of life and functional outcomes for affected individuals. Continuous follow-up and adaptation of treatment plans are essential as the child grows and their needs evolve.

Diagnostic Criteria

The ICD-10 code Q71.33 refers to the congenital absence of hand and finger, bilateral. This condition is classified under congenital malformations of the limbs, specifically affecting the hands and fingers. To diagnose this condition accurately, healthcare professionals typically rely on a combination of clinical evaluation, imaging studies, and genetic assessments. Below are the key criteria and methods used for diagnosis:

Clinical Evaluation

  1. Physical Examination: A thorough physical examination is essential. The clinician will assess the upper limbs for the presence or absence of hands and fingers. This includes evaluating the range of motion, any associated anomalies, and the overall functionality of the limbs.

  2. Family History: Gathering a detailed family history can provide insights into potential genetic factors. Congenital limb deficiencies can sometimes be hereditary, so understanding the family background is crucial.

Imaging Studies

  1. Ultrasound: In prenatal cases, ultrasound imaging can be utilized to detect limb abnormalities. This non-invasive method allows for early identification of congenital conditions before birth.

  2. X-rays: Postnatally, X-rays may be performed to assess the skeletal structure of the hands and arms. This can help confirm the absence of bones associated with the hands and fingers.

  3. MRI or CT Scans: In some cases, advanced imaging techniques like MRI or CT scans may be employed to provide a more detailed view of the limb structure and to rule out other associated anomalies.

Genetic Testing

  1. Chromosomal Analysis: Genetic testing may be recommended to identify any chromosomal abnormalities that could be associated with congenital limb deficiencies. This is particularly relevant if there are other congenital anomalies present.

  2. Targeted Gene Panels: In certain cases, specific gene panels may be tested to look for mutations known to cause limb malformations.

Differential Diagnosis

It is also important to differentiate congenital absence of hands and fingers from other conditions that may present similarly, such as:

  • Amniotic Band Syndrome: This condition can cause limb deformities due to constriction by fibrous bands in the amniotic sac.
  • Syndromic Conditions: Some syndromes, like Holt-Oram syndrome, can present with upper limb malformations and may require a broader diagnostic approach.

Conclusion

The diagnosis of congenital absence of hand and finger, bilateral (ICD-10 code Q71.33), involves a comprehensive approach that includes clinical evaluation, imaging studies, and genetic testing. Early diagnosis is crucial for planning appropriate interventions and support for affected individuals. If you have further questions or need more specific information, feel free to ask!

Related Information

Approximate Synonyms

  • Bilateral Congenital Amputation
  • Congenital Upper Limb Deficiency
  • Congenital Limb Deficiency
  • Phocomelia
  • Ectrodactyly
  • Bilateral Hand and Finger Agenesis
  • Bilateral Hand and Finger Malformation

Description

  • Congenital absence of hand and finger on both sides
  • Present at birth due to developmental anomalies
  • Genetic factors, environmental influences or a combination
  • Limb malformations including complete or partial absence
  • Absence of hands or fingers on one or both sides
  • Associated anomalies may be present in other body systems
  • Diagnosis made through physical examination and imaging studies
  • Multidisciplinary management includes surgical interventions
  • Prosthetics use to enhance mobility and functionality
  • Rehabilitation services for daily living skills development

Clinical Information

  • Complete absence of both hands and fingers
  • Associated limb anomalies present in some cases
  • Other congenital anomalies may be present
  • Functional limitations in daily activities
  • Psychosocial challenges including low self-esteem
  • Developmental delays due to associated conditions
  • Genetic component with family history of anomalies

Treatment Guidelines

  • Comprehensive clinical evaluation
  • Imaging studies (X-rays or MRI)
  • Genetic counseling may be necessary
  • Multidisciplinary treatment team
  • Prosthetic fitting with custom prosthetics
  • Adaptive devices for daily activities
  • Surgical interventions for limb reconstruction
  • Bone lengthening techniques
  • Physical therapy for strength and mobility
  • Occupational therapy for fine motor skills
  • Counseling for emotional support

Diagnostic Criteria

Related Diseases

campomelic dysplasia obsolete SC phocomelia syndrome obsolete Saldino-Noonan syndrome obsolete Majewski syndrome Walker-Warburg syndrome muscular dystrophy-dystroglycanopathy type B1 ABCD syndrome acheiropody acrocapitofemoral dysplasia Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 obsolete anonychia congenita Baller-Gerold syndrome Bart-Pumphrey syndrome Boomerang dysplasia X-linked monogenic disease obsolete Opitz-GBBB syndrome Ogden syndrome Kahrizi syndrome CHARGE syndrome Marshall-Smith syndrome IMAGe syndrome Townes-Brocks syndrome Adams-Oliver syndrome Baraitser-Winter syndrome Van Maldergem syndrome Simpson-Golabi-Behmel syndrome type 1 omodysplasia Ohdo syndrome Ohdo syndrome, SBBYS variant acrofacial dysostosis Cincinnati type Vici syndrome Galloway-Mowat syndrome 1 Hennekam syndrome orofaciodigital syndrome III orofaciodigital syndrome VIII orofaciodigital syndrome XI orofaciodigital syndrome IX acrofacial dysostosis Rodriguez type acrofacial dysostosis, Catania type chondrodysplasia Blomstrand type chromosomal deletion syndrome chromosome 14q11-q22 deletion syndrome chromosome 16p12.1 deletion syndrome chromosome 16q22 deletion syndrome chromosome 19q13.11 deletion syndrome chromosome 1p36 deletion syndrome chromosome 2p12-p11.2 deletion syndrome chromosome 3q29 microdeletion syndrome chromosome 6q11-q14 deletion syndrome chromosome 17q21.31 duplication syndrome chromosome 22q13 duplication syndrome Cole-Carpenter syndrome fibrochondrogenesis Goldberg-Shprintzen syndrome MEDNIK syndrome EAST syndrome Mowat-Wilson syndrome lethal congenital contracture syndrome 1 Ritscher-Schinzel syndrome Holzgreve-Wagner-Rehder Syndrome Ritscher-Schinzel syndrome 2 3MC syndrome 3 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Miles-Carpenter syndrome Christianson syndrome Pierson syndrome Potocki-Lupski syndrome

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