Foot and ankle in skeletal dysplasias

In brief

Skeletal dysplasias are rare conditions that affect the development of bones and, in some cases, cartilage and other tissues. They can change the shape, proportions and alignment of the feet and ankles and affect the way a child walks. Treatment is tailored to the diagnosis, age, deformity and functional needs of each child.

Typical age

From birth to adolescence, depending on the type of dysplasia

Also known as

Bone dysplasias · Inherited skeletal dysplasias · Rare skeletal disorders

What is it?

Skeletal dysplasias are a large and varied group of conditions in which the skeleton develops and grows differently from usual. More than 700 skeletal disorders have been described, although their frequency, severity and features vary considerably. Many are genetic and may be identified before birth, during childhood or, in some cases, later on.

These conditions can affect different parts of the skeleton, including the limbs, the spine and the joints. In the feet and ankles they can change the shape of the bones, the orientation of the heel, the arch or the relationship between the different joints. Depending on the type of dysplasia, there may be flat feet, cavus feet, heel or forefoot deformities, toe abnormalities, instability or limited movement. Some changes are present from birth, while others become more obvious during growth.

There is no single foot pattern associated with all dysplasias. Some may come with abnormal growth of the foot bones, angular deformities or joint problems; others may be associated with stiffness, joint laxity or an abnormal distribution of loads. So it is essential to know the specific dysplasia and not just treat the outward shape of the foot.

The orthopaedic assessment must take into account future growth, how the condition progresses and possible problems in other parts of the musculoskeletal system. Depending on the case, collaboration with clinical genetics, paediatrics, rehabilitation and other specialties experienced in rare skeletal conditions may be needed.

Signs parents may notice

The features depend on the type of dysplasia, but some signs that may prompt an assessment are:

• The foot has a shape or proportions different from usual.
• The heel tilts inwards or outwards when standing.
• The arch is very low or very high.
• There are toe deformities or significant differences between the two feet.
• The child has difficulty finding comfortable shoes or needs special adaptations.
• Pain, calluses, blisters or pressure areas appear.
• The ankle seems unstable or there are repeated sprains.
• The child walks with difficulty, limps or tires more than expected.
• The deformity increases or changes as the child grows.
• Movement of the foot or ankle is limited.

The absence of pain does not rule out a problem that needs follow-up. Some deformities may progress during growth before causing significant symptoms.

When to see a specialist

An assessment by a paediatric orthopaedic surgeon is recommended when a child with a skeletal dysplasia has a foot or ankle deformity, difficulty walking or changes in alignment. Preventive check-ups may also be advisable, even without pain, if the diagnosis carries a risk of progressive deformities.

It is worth seeing a specialist if:

• The shape of the foot changes progressively.
• Pain appears when walking or during physical activity.
• The child limps, falls often or does less than before.
• Shoes cause blisters or persistent calluses appear.
• The ankle is unstable or there are repeated sprains.
• Foot movement decreases or it becomes difficult to place the sole properly on the ground.
• Orthoses no longer fit properly or cause skin sores.
• A growing difference appears between the two feet.

When is it urgent?

An urgent assessment is needed if the child has sudden severe pain, cannot bear weight, has significant swelling after an injury or a red, hot limb with fever. These symptoms require ruling out an injury or another acute complication.

How is it diagnosed?

Diagnosis is based on the medical history, the physical examination and knowledge of the specific skeletal dysplasia. If the child already has an established diagnosis, it is important to review its features and the expected course of the condition.

During the examination, the specialist assesses:

• Foot shape and alignment: arch, heel position, forefoot orientation and toe deformities.
• Joint movement: checking for stiffness, ankle limitation or problems in the foot joints.
• Weight-bearing and walking: how weight is distributed, whether the child walks steadily and whether there is pain or compensation.
• Skin and footwear: identifying pressure areas, calluses and fitting problems.
• Growth and progress: comparing examinations with earlier ones to see whether the deformity is stable or progressing.

X-rays may be needed to study bone shape, alignment and the joints. In certain situations, other imaging tests such as CT or MRI provide additional information to plan treatment.

Genetic testing may be part of the overall diagnosis of the dysplasia, especially if the specific disorder has not yet been identified. Not every child needs the same tests: they are chosen according to the clinical findings and the features of each condition.

Treatment

Treatment is tailored to the type of dysplasia, the deformity, the child’s age, the amount of growth remaining and the functional impact. The aim is stable, comfortable weight-bearing, easier walking, prevention of pressure sores and preserved foot and ankle function.

Conservative treatment

1. Monitoring during growth

If the deformity is mild, does not cause significant symptoms and is not progressing, regular check-ups may be enough. How often they are needed depends on the dysplasia and the risk of changes in alignment.

2. Adapted footwear

Suitable footwear can improve comfort and make walking easier. Some children need wider or deeper shoes, or shoes with specific features to accommodate the shape of the foot or an orthosis.

3. Insoles and orthoses

Insoles can help distribute loads and relieve certain discomfort when the type of deformity allows. Ankle-foot orthoses can provide stability and improve control when standing and walking in selected cases.

These devices do not correct every bone deformity. They should be prescribed on the basis of the examination and functional goals, and reviewed regularly to adapt them to growth and avoid pressure points.

4. Physiotherapy and rehabilitation

Physiotherapy can help maintain movement, improve available strength and work on balance and walking. Exercises must be adapted to the features of the dysplasia and avoid overloading joints or bones when there is specific fragility.

5. Multidisciplinary coordination

Depending on the diagnosis, collaboration between paediatric orthopaedics, clinical genetics, paediatrics, rehabilitation and other specialists may be needed. This coordination allows foot treatment to be integrated into the child’s overall care.

Surgical treatment

Surgery may be considered when a significant or progressive deformity causes pain, makes weight-bearing difficult, limits walking, causes instability or prevents the use of suitable footwear despite conservative treatment.

The technique depends on the anatomy and the features of each dysplasia. It may include:

• Corrective osteotomies, to change the orientation of one or more bones.
• Tendon procedures, when a change in tendon length or balance contributes to the deformity.
• Specific joint treatments, in certain cases of stiffness, incongruity or joint involvement.
• Combined procedures, when the deformity affects several components of the foot and ankle.

Planning requires knowing how the dysplasia may progress and how much growth remains. In some children it is better to wait or choose a technique that takes growth into account; in others, a severe deformity may justify surgery before skeletal maturity.

Operations are usually performed under general anaesthesia and may require a hospital stay. The length of stay, the need for a cast and how long weight-bearing is restricted depend on the surgery and the patient.

Not every deformity needs surgery, and there is no single technique suitable for all dysplasias. The decision must be individual, weighing the expected functional benefits against the risks of surgery.

Outlook and recovery

The outlook depends on the type of dysplasia, the initial deformity and how the skeleton changes during growth. Some children keep good function with monitoring and adapted footwear; others need more frequent check-ups or corrective treatment.

• With conservative treatment: check-ups monitor alignment, movement, pain and the fit of orthoses. Devices must be adjusted as the child grows.
• After surgery: a cast or orthosis may be needed for several weeks. How long depends on the procedures performed and bone healing.
• Weight-bearing and walking: some procedures allow early weight-bearing, while others require it to be limited for a time. The plan depends on the technique and clinical progress.
• Return to school: adapted to the child’s mobility, any need for walking aids and safety at school.
• Return to sport: gradual, once bone and functional recovery allow. Activities should be adjusted to the features of the dysplasia and the medical team’s advice.

Long-term follow-up is important because growth can change the alignment of the foot and ankle. In some cases orthoses may need adjusting, new treatment may be needed or the surgical plan may need reviewing.

The main aim is to maintain the best possible function, reduce pain and help the child take part in everyday activities, with a plan adapted to their diagnosis and needs.

This page is for general information and does not replace an assessment by a specialist. If you are worried about your child's foot, talk to their paediatrician or book an appointment.