Multiple epiphyseal dysplasia type 5

What it is

From: Orphanet

Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Delayed proximal femoral epiphyseal ossification · Very frequent (99-80%)

Developmental delay of ossification of the proximal epiphysis of the femur.

Hip dysplasia · Very frequent (99-80%)

The presence of developmental dysplasia of the hip.

Abnormality of the epiphyses of the feet · Frequent (79-30%)

Any abnormality of the epiphyses of the feet.

Abnormality of the hip joint · Frequent (79-30%)

An abnormality of the hip joint.

Gait disturbance · Frequent (79-30%)

The term gait disturbance can refer to any disruption of the ability to walk.

Genu valgum · Frequent (79-30%)

The legs angle inward, such that the knees are close together and the ankles far apart.

Genu varum · Frequent (79-30%)

A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.

Knee pain · Frequent (79-30%)

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.

Mild short stature · Frequent (79-30%)

A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.

Abnormality of upper limb epiphysis morphology · Frequent (79-30%)

Premature osteoarthritis · Frequent (79-30%)

Abnormality of the acetabulum · Occasional (29-5%)

An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.

Ankle pain · Occasional (29-5%)

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.

Arthralgia of the hip · Occasional (29-5%)

Joint pain affecting the hip.

Other findings in the same source

From: Orphanet

Additional reported features include Avascular necrosis of the capital femoral epiphysis (Occasional (29-5%)); Decreased hip abduction (Occasional (29-5%)); Gait disturbance (Occasional (29-5%)); Intervertebral disc degeneration (Occasional (29-5%)); Joint stiffness (Occasional (29-5%)); Limited hip movement (Occasional (29-5%)); Multiple small vertebral fractures (Occasional (29-5%)); Osteoarthritis of the small joints of the hand (Occasional (29-5%)); Back pain (Very rare (<4-1%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Childhood

Inheritance in the source

From: Orphanet

Autosomal dominant

Frequency and the population described

From: Orphanet

Reported family(ies): 18.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal dominant pattern means that one altered copy of a relevant gene can be sufficient for the condition. Some affected people inherit the change; others have a new change without an affected parent. The precise finding, family history and condition determine what this means for relatives.

Which doctor should you see?

The suggested department for discussing Multiple epiphyseal dysplasia type 5 is Orthopaedics, with a orthopaedic specialist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• What explains the change in pain, movement or function?
• Which activities need adjustment while the diagnosis is being clarified?
• What are the roles of rehabilitation, observation and surgery in this situation?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Multiple epiphyseal dysplasia type 5. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.