Congenital musculoskeletal disorders | NPTE-PTA Congenital disorders

The following congenital disorders primarily affect the bones, joints, and connective tissue.

Developmental dysplasia of the hip (DDH)

Definitions

Developmental dysplasia of the hip (DDH): A congenital condition in which the hip joint develops abnormally, resulting in an acetabulum too shallow to properly fit the femoral head. The abnormal fit allows for recurrent dislocation, leading to an inability to appropriately meet developmental milestones.

Factors that contribute to the development of DDH include first pregnancy, breech birth, swaddling too tightly with the legs extended, and increased infant size. Diagnosis of DDH includes physical examination, x-ray, and ultrasound.

Common symptoms

Leg length discrepancy (affected leg is shorter than the unaffected)
Increased folds in the skin of the thigh/buttocks of the affected extremity
Increased popping noted when moving the affected leg
- Ortolani test
  - Abduction of the flexed hip reduces a dislocated femoral head back into the acetabulum, producing an audible clunk
- Barlow test
  - Adduction of the flexed hip provokes (dislocates) an unstable hip, producing an audible clunk

Physical therapy interventions for DDH

Education provided to the family for the appropriate positioning of the infant to reduce hip dislocation occurrence
Gentle range of motion activities that do not cause dislocation
Wearing of Pavlik harness
- The Pavlik harness is a soft splint used to allow for consistent contact between the acetabulum and the femoral head
  - Positioned in abduction of legs, hip flexion, and knee flexion through a series of straps to keep the infant in this position
- Used for infants 6 months or younger, with a goal of 24-hour wear for the first 6 weeks, progressing to nighttime-only wear for the following 6 weeks
  - The parents must learn how to care for the baby fully during the period of continuous wear
  - Change from wearing 24 hours a day to only at night is determined by an orthopedic physician via x-ray and ultrasound
  - Developmental delay may occur in an infant due to constant positioning, as mentioned above, with decreased ability to move out of position

Clubfoot (talipes equinovarus)

Definitions

Clubfoot (talipes equinovarus): A congenital disorder in which the foot is turned down and inward due to a shortened Achilles tendon. Etiology is unknown, but it may be related to imbalanced development of the tendons and muscles of the foot during pregnancy, or to spina bifida.

Diagnosis is confirmed via physical examination and X-ray imaging.

Phases of intervention

Phase 1: serial casting
- Clubfoot is stretched/manipulated to improve the range of motion, and then a hard cast is set in place over the affected extremity
  - The hard cast is removed, and stretching occurs again, with a new cast put in place with the new range of motion that has been achieved
  - The goal is to wear the hard cast until normal alignment is achieved - can take 4-10 weeks to achieve normal alignment

Phase 2: bracing
- Once serial casting is complete (normal alignment is achieved), bracing is put in place to aid in maintaining the normal alignment of the foot
  - The timeframe for bracing can vary depending on the severity of the original clubfoot deformity

Surgical intervention may be necessary depending on the severity of the deformity and the inability to change Achilles tendon length through conservative measures.

Physical therapy interventions for clubfoot

Physical therapy is important in performing serial casting, recommending appropriate bracing options, and intervening if any developmental delays have occurred due to clubfoot and/or clubfoot interventions.

Osteogenesis imperfecta

Definitions

Osteogenesis imperfecta: A group of genetic disorders that impacts an individual’s ability to produce strong, healthy bones (most often a defect in the amount or structure of type I collagen, the most abundant protein in bone), increasing the risk of bone fractures with minimal impact.

Symptoms of osteogenesis imperfecta

Short stature
Joint laxity
Frequent fractures
Bone deformities
Muscle weakness
Hearing loss
Dental problems

There are varying degrees of severity of osteogenesis imperfecta, ranging from mild symptoms that persist throughout life to severe symptoms in which the newborn dies within weeks of birth.

Physical therapy interventions for osteogenesis imperfecta

Education is provided to parents on swaddling techniques, positioning, handling, and fall-prevention strategies as the child progresses through developmental milestones.

Arthrogryposis multiplex congenita (AMC)

Definitions

Arthrogryposis multiplex congenita (AMC): A rare, non-progressive congenital condition characterized by multiple joint contractures found in at least two different body areas, present at birth and resulting from limited fetal movement in the womb (fetal akinesia).

The condition is not a single disease but a clinical finding that may have several underlying causes, primarily involving the neuromuscular system. When a fetus does not move enough in utero, the joints do not develop normally and soft tissues such as muscles and tendons can become contracted.

Clinical presentation

Multiple joint contractures at birth (e.g., clubfoot, extended knees, flexed wrists, thumb-in-palm deformity)
Muscle hypoplasia or replacement of muscle tissue with fibrous or fatty tissue
Thin, atrophic limbs
No progressive neurological decline
Normal cognitive function in most cases

Medical and physical therapy management

Physical therapy: early passive range of motion and daily stretching to prevent worsening contractures, positioning and serial casting to correct deformities, strengthening of available muscle groups, and mobility/gait training with assistive devices (walkers, wheelchairs, KAFOs) as needed
Orthotic management: AFOs or KAFOs for ambulation, hand splints to improve function, and spinal orthoses if scoliosis develops
Surgical management: tendon transfers, joint release, clubfoot correction (e.g., Ponseti method or surgical release), and hip or knee reconstruction in severe deformities

Developmental dysplasia of the hip (DDH)

Acetabulum too shallow, femoral head dislocates recurrently; risk factors: first pregnancy, breech birth, tight swaddling with legs extended, large infant size
Diagnosed via physical exam, x-ray, ultrasound
Symptoms: leg length discrepancy, extra thigh/buttock skin folds, hip popping
- Ortolani test: abduction reduces dislocated hip, produces clunk
- Barlow test: adduction dislocates unstable hip, produces clunk

Physical therapy interventions for DDH

Family education on positioning to prevent dislocation
Gentle ROM avoiding dislocation
Pavlik harness: abduction/flexion positioning, used for infants ≤6 months
- 24-hour wear first 6 weeks, then nighttime-only for next 6 weeks
- Progression determined by orthopedic physician (x-ray/ultrasound)
- Risk of developmental delay from constant positioning

Clubfoot (talipes equinovarus)

Foot turned down/inward due to shortened Achilles tendon; cause unknown, may relate to tendon/muscle imbalance or spina bifida
Diagnosed via physical exam and x-ray

Phases of intervention

Phase 1: serial casting — stretch/manipulate foot, cast, repeat; normal alignment achieved in 4-10 weeks
Phase 2: bracing — maintains alignment after casting; duration varies by severity
Surgery considered if conservative measures fail to correct Achilles tendon length

Physical therapy interventions for clubfoot

PT performs serial casting, recommends bracing
Addresses developmental delays from clubfoot or its treatment

Osteogenesis imperfecta

Genetic disorder affecting type I collagen production, causing fragile bones and easy fractures
Symptoms: short stature, joint laxity, frequent fractures, bone deformities, muscle weakness, hearing loss, dental problems
Severity ranges from mild lifelong symptoms to fatal neonatal cases

Physical therapy interventions for osteogenesis imperfecta

Parent education on safe swaddling, positioning, handling
Fall-prevention strategies through developmental milestones

Arthrogryposis multiplex congenita (AMC)

Non-progressive condition with multiple joint contractures (≥2 body areas) from fetal akinesia (limited in-utero movement)
Clinical presentation: joint contractures (clubfoot, extended knees, flexed wrists, thumb-in-palm), muscle hypoplasia/fibrofatty replacement, thin atrophic limbs
No progressive neurological decline; cognition typically normal

Medical and physical therapy management for AMC

PT: early passive ROM, daily stretching, positioning/serial casting, strengthening, mobility/gait training with assistive devices
Orthotics: AFOs/KAFOs, hand splints, spinal orthoses for scoliosis
Surgery: tendon transfers, joint release, clubfoot correction (Ponseti or surgical), hip/knee reconstruction for severe deformities

The following congenital disorders primarily affect the bones, joints, and connective tissue.

Developmental dysplasia of the hip (DDH)

Definitions

Developmental dysplasia of the hip (DDH): A congenital condition in which the hip joint develops abnormally, resulting in an acetabulum too shallow to properly fit the femoral head. The abnormal fit allows for recurrent dislocation, leading to an inability to appropriately meet developmental milestones.

Common symptoms

Leg length discrepancy (affected leg is shorter than the unaffected)
Increased folds in the skin of the thigh/buttocks of the affected extremity
Increased popping noted when moving the affected leg
- Ortolani test
  - Abduction of the flexed hip reduces a dislocated femoral head back into the acetabulum, producing an audible clunk
- Barlow test
  - Adduction of the flexed hip provokes (dislocates) an unstable hip, producing an audible clunk

Physical therapy interventions for DDH

Education provided to the family for the appropriate positioning of the infant to reduce hip dislocation occurrence
Gentle range of motion activities that do not cause dislocation
Wearing of Pavlik harness
- The Pavlik harness is a soft splint used to allow for consistent contact between the acetabulum and the femoral head
  - Positioned in abduction of legs, hip flexion, and knee flexion through a series of straps to keep the infant in this position
- Used for infants 6 months or younger, with a goal of 24-hour wear for the first 6 weeks, progressing to nighttime-only wear for the following 6 weeks
  - The parents must learn how to care for the baby fully during the period of continuous wear
  - Change from wearing 24 hours a day to only at night is determined by an orthopedic physician via x-ray and ultrasound
  - Developmental delay may occur in an infant due to constant positioning, as mentioned above, with decreased ability to move out of position

Clubfoot (talipes equinovarus)

Definitions

Clubfoot (talipes equinovarus): A congenital disorder in which the foot is turned down and inward due to a shortened Achilles tendon. Etiology is unknown, but it may be related to imbalanced development of the tendons and muscles of the foot during pregnancy, or to spina bifida.

Diagnosis is confirmed via physical examination and X-ray imaging.

Phases of intervention

Phase 1: serial casting
- Clubfoot is stretched/manipulated to improve the range of motion, and then a hard cast is set in place over the affected extremity
  - The hard cast is removed, and stretching occurs again, with a new cast put in place with the new range of motion that has been achieved
  - The goal is to wear the hard cast until normal alignment is achieved - can take 4-10 weeks to achieve normal alignment

Phase 2: bracing
- Once serial casting is complete (normal alignment is achieved), bracing is put in place to aid in maintaining the normal alignment of the foot
  - The timeframe for bracing can vary depending on the severity of the original clubfoot deformity

Surgical intervention may be necessary depending on the severity of the deformity and the inability to change Achilles tendon length through conservative measures.

Physical therapy interventions for clubfoot

Osteogenesis imperfecta

Definitions

Osteogenesis imperfecta: A group of genetic disorders that impacts an individual’s ability to produce strong, healthy bones (most often a defect in the amount or structure of type I collagen, the most abundant protein in bone), increasing the risk of bone fractures with minimal impact.

Symptoms of osteogenesis imperfecta

Short stature
Joint laxity
Frequent fractures
Bone deformities
Muscle weakness
Hearing loss
Dental problems

There are varying degrees of severity of osteogenesis imperfecta, ranging from mild symptoms that persist throughout life to severe symptoms in which the newborn dies within weeks of birth.

Physical therapy interventions for osteogenesis imperfecta

Education is provided to parents on swaddling techniques, positioning, handling, and fall-prevention strategies as the child progresses through developmental milestones.

Arthrogryposis multiplex congenita (AMC)

Definitions

Arthrogryposis multiplex congenita (AMC): A rare, non-progressive congenital condition characterized by multiple joint contractures found in at least two different body areas, present at birth and resulting from limited fetal movement in the womb (fetal akinesia).

Clinical presentation

Multiple joint contractures at birth (e.g., clubfoot, extended knees, flexed wrists, thumb-in-palm deformity)
Muscle hypoplasia or replacement of muscle tissue with fibrous or fatty tissue
Thin, atrophic limbs
No progressive neurological decline
Normal cognitive function in most cases

Medical and physical therapy management

Physical therapy: early passive range of motion and daily stretching to prevent worsening contractures, positioning and serial casting to correct deformities, strengthening of available muscle groups, and mobility/gait training with assistive devices (walkers, wheelchairs, KAFOs) as needed
Orthotic management: AFOs or KAFOs for ambulation, hand splints to improve function, and spinal orthoses if scoliosis develops
Surgical management: tendon transfers, joint release, clubfoot correction (e.g., Ponseti method or surgical release), and hip or knee reconstruction in severe deformities

Developmental dysplasia of the hip (DDH)

Acetabulum too shallow, femoral head dislocates recurrently; risk factors: first pregnancy, breech birth, tight swaddling with legs extended, large infant size
Diagnosed via physical exam, x-ray, ultrasound
Symptoms: leg length discrepancy, extra thigh/buttock skin folds, hip popping
- Ortolani test: abduction reduces dislocated hip, produces clunk
- Barlow test: adduction dislocates unstable hip, produces clunk

Physical therapy interventions for DDH

Family education on positioning to prevent dislocation
Gentle ROM avoiding dislocation
Pavlik harness: abduction/flexion positioning, used for infants ≤6 months
- 24-hour wear first 6 weeks, then nighttime-only for next 6 weeks
- Progression determined by orthopedic physician (x-ray/ultrasound)
- Risk of developmental delay from constant positioning

Clubfoot (talipes equinovarus)

Foot turned down/inward due to shortened Achilles tendon; cause unknown, may relate to tendon/muscle imbalance or spina bifida
Diagnosed via physical exam and x-ray

Phases of intervention

Phase 1: serial casting — stretch/manipulate foot, cast, repeat; normal alignment achieved in 4-10 weeks
Phase 2: bracing — maintains alignment after casting; duration varies by severity
Surgery considered if conservative measures fail to correct Achilles tendon length

Physical therapy interventions for clubfoot

PT performs serial casting, recommends bracing
Addresses developmental delays from clubfoot or its treatment

Osteogenesis imperfecta

Genetic disorder affecting type I collagen production, causing fragile bones and easy fractures
Symptoms: short stature, joint laxity, frequent fractures, bone deformities, muscle weakness, hearing loss, dental problems
Severity ranges from mild lifelong symptoms to fatal neonatal cases

Physical therapy interventions for osteogenesis imperfecta

Parent education on safe swaddling, positioning, handling
Fall-prevention strategies through developmental milestones

Arthrogryposis multiplex congenita (AMC)

Non-progressive condition with multiple joint contractures (≥2 body areas) from fetal akinesia (limited in-utero movement)
Clinical presentation: joint contractures (clubfoot, extended knees, flexed wrists, thumb-in-palm), muscle hypoplasia/fibrofatty replacement, thin atrophic limbs
No progressive neurological decline; cognition typically normal

Medical and physical therapy management for AMC

PT: early passive ROM, daily stretching, positioning/serial casting, strengthening, mobility/gait training with assistive devices
Orthotics: AFOs/KAFOs, hand splints, spinal orthoses for scoliosis
Surgery: tendon transfers, joint release, clubfoot correction (Ponseti or surgical), hip/knee reconstruction for severe deformities