Spondyloepimetaphyseal dysplasia congenita, Strudwick type

What it is

From: Orphanet

A rare spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth, with shortened limbs and other skeletal abnormalities, including lordosis, kyphoscoliosis, flattened vertebrae, coxa vara, and abnormal epiphyses and metaphyses evident within the first year of life. The presence of metaphyseal dysplasia differentiates this condition from spondyloepiphyseal dysplasia congenita (SEDC). Ocular abnormalities, such as myopia, are frequently associated. Characteristic facial features include hypertelorism, a flat facial profile, and the Pierre Robin sequence. An increased risk of cervical (atlantoaxial) instability due to delayed ossification of the odontoid process has also been reported in some patients.

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.

Flared metaphysis · Very frequent (99-80%)

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.

Aplasia/hypoplasia involving bones of the extremities · Very frequent (99-80%)

Abnormal vertebral morphology · Frequent (79-30%)

An abnormality of one or more of the vertebrae.

Abnormally ossified vertebrae · Frequent (79-30%)

An abnormality of the formation and mineralization of one or more vertebrae.

Coarse facial features · Frequent (79-30%)

Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.

Flat face · Frequent (79-30%)

Absence of concavity or convexity of the face when viewed in profile.

Glossoptosis · Frequent (79-30%)

Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.

Hearing impairment · Frequent (79-30%)

A decreased magnitude of the sensory perception of sound.

Hypertelorism · Frequent (79-30%)

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).

Hypoplastic pubic bone · Frequent (79-30%)

Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.

Micrognathia · Frequent (79-30%)

Developmental hypoplasia of the mandible.

Myopia · Frequent (79-30%)

An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.

Short long bone · Frequent (79-30%)

One or more abnormally short long bone.

Small epiphyses · Frequent (79-30%)

Reduction in the size or volume of epiphyses.

Other findings in the same source

From: Orphanet

Additional reported features include Cervical instability (Frequent (79-30%)); Abnormal respiratory system physiology (Occasional (29-5%)); Carious teeth (Occasional (29-5%)); Delayed ossification of carpal bones (Occasional (29-5%)); Limited hip movement (Occasional (29-5%)); Maternal diabetes (Occasional (29-5%)); Platyspondyly (Occasional (29-5%)); Spinal cord compression (Occasional (29-5%)); Laryngotracheomalacia (Occasional (29-5%)); Restricted large joint movement (Occasional (29-5%)). 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 dominant

Frequency and the population described

From: Orphanet

Reported case(s): 30.0; 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 Spondyloepimetaphyseal dysplasia congenita, Strudwick type 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 Spondyloepimetaphyseal dysplasia congenita, Strudwick type. 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.