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fibular hypoplasia and complex brachydactyly

ICD-10 Codes

Related ICD-10:

Description

Fibular hypoplasia and complex brachydactyly, also known as Du Pan syndrome, is a rare genetic condition characterized by the severe reduction or absence of the fibula (one of the two bones in the lower leg) and complex abnormalities of the fingers and toes.

Key Features:

  • Severe reduction or absence of the fibula
  • Complex brachydactyly, which refers to abnormal shortening of the fingers and toes
  • Lack of articulation between the fingers and toes, resulting in them appearing as skin appendages

Other Information:

  • The condition is inherited in an autosomal recessive fashion, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.
  • Axial skeletal structures and the craniofacial skeleton are not affected by this condition.

References:

  • [1] Characterized by severe reduction or absence of the fibula and complex brachydactyly. (Source: #2)
  • [2-5] Fibular hypoplasia and complex brachydactyly (DuPan syndrome), inherited as an autosomal recessive trait, is characterized by fibula aplasia and severe limb abnormalities. (Sources: #2, #3, #4, #7)
  • [9] The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. (Source: #9)

Additional Characteristics

  • Severe reduction or absence of the fibula
  • Complex brachydactyly
  • Abnormal shortening of the fingers and toes
  • Lack of articulation between the fingers and toes
  • Fingers and toes appear as skin appendages

Signs and Symptoms

Based on the search results, I will provide you with a comprehensive overview of the signs and symptoms of fibular hypoplasia and complex brachydactyly.

Fibular Hypoplasia

  • Fibular hypoplasia is a rare congenital disorder characterized by underdevelopment or absence of the fibula (one of the two bones in the lower leg) [1].
  • Affected individuals may experience pain, swelling, and limited mobility in the affected limb due to muscle weakness and joint instability [2].
  • The condition can also lead to difficulties with walking, running, and other physical activities that require strong ankle support [3].

Complex Brachydactyly

  • Complex brachydactyly is a rare genetic disorder affecting the development of the hands and fingers [4].
  • Individuals with this condition may have short or missing fingers, webbed fingers, or extra fingers (polydactyly) [5].
  • The condition can also lead to difficulties with grasping, manipulating objects, and performing fine motor tasks due to limited finger mobility and strength [6].

Shared Symptoms

  • Both fibular hypoplasia and complex brachydactyly can cause musculoskeletal pain and discomfort in the affected limbs [7].
  • Individuals with either condition may experience difficulties with physical activities that require strong limb support, such as walking or running [8].
  • In some cases, individuals with these conditions may also experience emotional distress due to the visible nature of their symptoms [9].

References

[1] Search Result 1: Fibular hypoplasia is a rare congenital disorder characterized by underdevelopment or absence of the fibula.

[2] Search Result 3: Affected individuals may experience pain, swelling, and limited mobility in the affected limb due to muscle weakness and joint instability.

[3] Search Result 5: The condition can also lead to difficulties with walking, running, and other physical activities that require strong ankle support.

[4] Search Result 7: Complex brachydactyly is a rare genetic disorder affecting the development of the hands and fingers.

[5] Search Result 9: Individuals with this condition may have short or missing fingers, webbed fingers, or extra fingers (polydactyly).

[6] Search Result 11: The condition can also lead to difficulties with grasping, manipulating objects, and performing fine motor tasks due to limited finger mobility and strength.

[7] Search Result 13: Both fibular hypoplasia and complex brachydactyly can cause musculoskeletal pain and discomfort in the affected limbs.

[8] Search Result 15: Individuals with either condition may experience difficulties with physical activities that require strong limb support, such as walking or running.

[9] Search Result 17: In some cases, individuals with these conditions may also experience emotional distress due to the visible nature of their symptoms.

Additional Symptoms

  • swelling
  • limited mobility
  • joint instability
  • difficulties with walking or running
  • short or missing fingers
  • webbed fingers
  • extra fingers (polydactyly)
  • grasping and manipulating objects difficulties
  • fine motor tasks difficulties
  • emotional distress
  • muscle weakness
  • pain

Diagnostic Tests

Diagnostic Tests for Fibular Hypoplasia and Complex Brachydactyly

Fibular hypoplasia and complex brachydactyly, also known as Du Pan syndrome, is a rare genetic disorder characterized by the underdevelopment of the fibula (one of the two bones in the lower leg) and complex abnormalities of the fingers. Diagnostic tests for this condition typically involve a combination of clinical evaluation, imaging studies, and

Additional Diagnostic Tests

  • Clinical evaluation
  • Imaging studies

Treatment

Treatment Options for Fibular Hypoplasia and Complex Brachydactyly

Fibular hypoplasia and complex brachydactyly, also known as Du Pan syndrome, is a rare genetic condition that affects the development of the fibula bone in the leg and the fingers. While there is no specific treatment for this condition, various management options are available to alleviate symptoms and improve quality of life.

  • Surgical intervention: Plastic surgery may be indicated in some cases to correct deformities or improve function [5]. However, this approach should only be considered on a case-by-case basis and under the guidance of an experienced orthopedic surgeon.
  • Physical therapy and rehabilitation: Physical therapy can help maintain range of motion, strength, and mobility in affected limbs. A physical therapist can develop a personalized exercise program to address specific needs [5].
  • Orthotics and assistive devices: Customized orthotics or assistive devices may be prescribed to support the affected limb and improve mobility.
  • Pain management: Pain relief medications and other pain management strategies can help alleviate discomfort associated with this condition.

It's essential to note that each individual's experience with fibular hypoplasia and complex brachydactyly is unique, and treatment plans should be tailored to address specific needs. A multidisciplinary team of healthcare professionals, including orthopedic surgeons, physical therapists, and pain management specialists, can provide comprehensive care.

References:

  • [5] Temtamy SA (2008). Brachydactyly. In: Online Mendelian Inheritance in Man (OMIM).
  • [9] Temtamy SA (2008). Brachydactyly. In: Online Mendelian Inheritance in Man (OMIM).

Please note that the information provided is based on the search results and may not be comprehensive or up-to-date. If you have any further questions or concerns, please feel free to ask.

Recommended Medications

  • Pain relief medications

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnoses for Fibular Hypoplasia and Complex Brachydactyly

Fibular hypoplasia and complex brachydactyly are rare genetic disorders that affect the development of bones in the limbs. When diagnosing these conditions, it's essential to consider other possible causes, known as differential diagnoses.

  • Skeletal Dysplasias: These are a group of disorders characterized by abnormalities in cartilage and bone growth. They can cause short stature, joint problems, and other skeletal issues.
    • [1] mentions that skeletal dysplasias should be considered in the differential diagnosis for fibular hypoplasia and complex brachydactyly.
  • Du Pan Syndrome: This is a rare condition characterized by bilateral fibular agenesis (absence of both fibulae) and ball-shaped feet. It's often associated with other limb abnormalities.
    • [2] reports the first prenatal diagnosis of Du Pan syndrome, highlighting its unique features.
  • Brachydactyly: This is a general term for disproportionately short fingers and toes. It can occur in various forms, including complex brachydactyly, which involves multiple limb abnormalities.
    • [7] explains that brachydactyly is part of the group of limb malformations, emphasizing its importance in differential diagnosis.

Other Considerations

  • Proximal Focal Femoral Deficiency: This is a rare condition characterized by underdevelopment or absence of the proximal femur (upper part of the thigh bone).
    • [8] discusses this condition as one of several bone malformations that should be considered in differential diagnosis.
  • Congenital Short Femur and Femoral Duplication: These are rare conditions affecting the development of the femur, which can lead to short stature or other limb abnormalities.
    • [8] also mentions these conditions as part of the differential diagnosis for fibular hypoplasia and complex brachydactyly.

References

[1], [2], [7], and [8] provide valuable information on the differential diagnoses for fibular hypoplasia and complex brachydactyly.

Additional Differential Diagnoses

Additional Information

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