Spondyloepiphyseal dysplasia congenita

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

Spondyloepiphyseal dysplasia (SED) congenita is a disorder of bone development that causes short stature with a particularly short torso and short arms and legs. The parts of the body are not proportional to one another (disproportionate short stature) in people with this condition. Affected individuals typically have hands and feet that are of average size. SED congenita affects the bones of the spine (spondylo-) and the ends (epiphyses) of the long bones in the arms and legs. People with this condition also have problems with vision and hearing. The word "congenita" indicates that the condition is often noticeable at birth. The signs and symptoms of SED congenita can vary among affected individuals.

People with SED congenita have an adult height that ranges from 3 feet to almost 5 feet. Affected individuals may develop abnormal curvature of the spine (scoliosis or kyphosis), which can worsen during childhood. Instability of the spinal bones (vertebrae) in the neck can cause these bones to shift, which increases the risk of damage to the spinal cord.

Other skeletal issues in individuals with SED congenita can include flattened vertebrae (platyspondyly), an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara), and inward- and upward-turning feet (clubfoot). Arthritis and decreased joint mobility often develop early in life. An abnormally short, broad, and barrel-shaped chest can cause problems with breathing. People with SED congenita may also have breathing problems due to weakness of the windpipe.

SED congenita often causes mild differences in facial features such as underdeveloped cheek bones (malar hypoplasia). Some affected individuals have a particular group of physical features called Pierre Robin sequence, which includes an opening in the roof of the mouth (cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). Severe nearsightedness (high myopia) is common in SED congenita, as are other eye problems that can impair vision such as a tearing of the light-sensitive tissue at the back of the eye (retinal detachment). Some people with SED congenita have hearing loss.

Some disorders, such as spondyloepiphyseal dysplasia with premature-onset arthrosis and Namaqualand type hip dysplasia, are similar to SED congenita but have milder signs and symptoms. These milder conditions were once thought to be separate disorders, but they are now considered to be part of SED congenita. People with these disorders typically have joint pain and stiffness, which can restrict movement. Symptoms can begin in childhood and often worsen over time.

ORPHANET DEFINITION Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

Inheritance

From: MedlinePlus Genetics, National Library of Medicine

Autosomal dominant+New variant; Autosomal recessive

Frequency in the source

From: MedlinePlus Genetics, National Library of Medicine

Prevalence at birth: 1-9 / 100 000; Europe; Value and class.

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.

Disproportionate short-trunk short stature · Very frequent (99-80%)

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.

Dysplasia of the femoral head · Very frequent (99-80%)

The presence of developmental dysplasia of the femoral head.

Growth delay · Very frequent (99-80%)

A deficiency or slowing down of growth pre- and postnatally.

Lumbar hyperlordosis · Very frequent (99-80%)

An abnormal accentuation of the inward curvature of the spine in the lumbar region.

Scoliosis · Very frequent (99-80%)

The presence of an abnormal lateral curvature of the spine.

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

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.

Other findings in the same source

From: Orphanet

Additional reported features include Flat acetabular roof (Frequent (79-30%)); Flat face (Frequent (79-30%)); Genu valgum (Frequent (79-30%)); Hip pain (Frequent (79-30%)); Increased head circumference (Frequent (79-30%)); Kyphosis (Frequent (79-30%)); Osteoporosis (Frequent (79-30%)); Platyspondyly (Frequent (79-30%)); Short neck (Frequent (79-30%)); Upper limb undergrowth (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: MedlinePlus Genetics, National Library of Medicine

Antenatal; Neonatal

Inheritance in the source

From: MedlinePlus Genetics, National Library of Medicine

Autosomal dominant+New variant; Autosomal recessive

Frequency and the population described

From: MedlinePlus Genetics, National Library of Medicine

Prevalence at birth: 1-9 / 100 000; Europe; Value and class.

Which doctor should you see?

The suggested department for discussing Spondyloepiphyseal dysplasia congenita 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 Spondyloepiphyseal dysplasia congenita. 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.