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Selected Medical Diagnoses in Children

  • Common elements of pediatric diagnoses that may routinely involve referral to rehabilitative professionals

  • Presented alphabetically in the following categories based on primary etiology:

  1. Musculoskeletal System

    1. Arthrogryposis

    2. Blount disease

    3. Developmental dysplasia of the hip

    4. Fractures

    5. Juvenile idiopathic arthritis

    6. Lateral discoid meniscus

    7. Legg-Calvé-Perthes disease

    8. Lower limb deficiency

    9. Nursemaid's elbow

    10. Plagiocephaly

    11. Overuse injuries

    12. Scoliosis

    13. Torticollis

  2. Neuromuscular System

    1. Acquired brain injury

    2. Autistic spectrum disorder

    3. Cerebral palsy

    4. Developmental coordination disorder

    5. Obstetrical brachial plexus paralysis

    6. Spina bifida

    7. Spinal cord injury

  3. Cardiovascular and Pulmonary System

    1. Asthma

    2. Congenital heart defects

  4. Integumentary System

    1. Burns

  5. Genetic, Metabolic, Environmental

    1. Achondroplasia

    2. Angelman syndrome

    3. Charcot-Marie-Tooth disease

    4. Childhood cancers

    5. Cri du chat syndrome

    6. Cystic fibrosis

    7. Down syndrome

    8. Ehlers-Danlos syndrome

    9. Fetal alcohol syndrome

    10. Inborn errors of metabolism

    11. Hemophilia

    12. Juvenile idiopathic arthritis

    13. Marfan syndrome

    14. Prader-Willi syndrome

    15. Muscular dystrophies

      1. Congenital

      2. Facioscapulohumeral

      3. Limb-girdle

      4. X-linked (Duchenne, Becker, Emery-Dreifuss)

    16. Neurofibromatosis

    17. Osteogenesis imperfecta

    18. Sickle cell disease

    19. Spinal muscular atrophy

For more information on rare diseases and disorders, consult the following organizations:

Musculoskeletal System

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Arthrogryposis Multiplex Congenita (AMC)
  • Amyoplasia (most common)

  • Distal arthrogryposis (seven subtypes)

Etiology Fetal abnormalities or maternal disorder causing decreased fetal movements (akinesia); increased connective tissue around developing joints; fixation and contracture of joint; abnormal development of muscle; possible factors include maternal infection or hyperthermia, teratogens, amniotic fluid abnormalities, single gene mutations

Cylindrical shape to extremities, absent skin creases, thin subcutaneous tissue, atrophy or absence of muscles, joint rigidity/contracture/ dislocation (distal more than proximal; often symmetrical), may include malformations (e.g. skeletal, cardiac, respiratory, CNS, urinary)

Two common presentations:

  • Dislocated hips, extended knees, equinovarus, internally rotated shoulders, flexed elbows, flexed and ulnarly deviated wrists

  • Abducted and externally rotated hips, flexed knees, equinovarus, internally rotated shoulders, extended elbows, flexed and ulnarly deviated wrists

Medications None known, other than routine meds associated with orthopedic surgery
Medical Tests CPK levels, cytogenetic studies (with multiplesystem involvement), x-ray for skeletal deformities, MRI to evaluate muscle mass; skin and muscle biopsy; consult ophthalmologist (retinal degeneration)
Medical Management Surgery to correct bony deformities, bone and tendon transfers to enhance function/self-care; consult neurologist, orthopedist, plastic surgeon



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Blount Disease (Tibia Vara)
  • Early onset or "infantile" (<3 yr old)

  • Late onset or "juvenile" (4–10 yr old)

  • "Adolescent" (>11 yr old)

  • Severity is graded in six stages based on age and x-ray findings (see Langenskiöld,1989)

Etiology Abnormal development of tibial epiphyseal plate causes altered growth and bowing of the tibia; irreversible pathologic change to bone occurs; risk increases with obesity
Presentation Progressive bone deformity with tibia vara and torsion, delayed ossification of medial epiphysis and metaphysis of proximal tibia, histological changes of the ...

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