Eiken syndrome

What it is

From: Orphanet

A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated.

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.

Arthralgia · Very frequent (99-80%)

Joint pain.

Epiphyseal dysplasia · Very frequent (99-80%)

Limited elbow flexion · Very frequent (99-80%)

Abnormal bone ossification · Frequent (79-30%)

Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.

Abnormal fingertip morphology · Frequent (79-30%)

An abnormal structure of the tip (end) of a finger.

Abnormal trabecular bone morphology · Frequent (79-30%)

Abnormal structure or form of trabecular bone.

Abnormality of the acetabulum · Frequent (79-30%)

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.

Absence of the sacrum · Frequent (79-30%)

Absence (aplasia) of the sacrum.

Broad foot · Frequent (79-30%)

A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.

Broad palm · Frequent (79-30%)

For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.

Cubitus valgus · Frequent (79-30%)

Abnormal positioning in which the elbows are turned out.

Fibular hypoplasia · Frequent (79-30%)

Underdevelopment of the fibula.

High iliac wings · Frequent (79-30%)

Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).

Limited hip movement · Frequent (79-30%)

A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.

Other findings in the same source

From: Orphanet

Additional reported features include Metaphyseal irregularity (Frequent (79-30%)); Narrow pelvis bone (Frequent (79-30%)); Short foot (Frequent (79-30%)); Short palm (Frequent (79-30%)); Short phalanx of finger (Frequent (79-30%)); Short stature (Frequent (79-30%)); Short toe (Frequent (79-30%)); Thin bony cortex (Frequent (79-30%)); Delayed epiphyseal ossification (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal recessive

Frequency and the population described

From: Orphanet

Reported case(s): 6.0; 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 recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Eiken syndrome 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 Eiken syndrome. 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.