What are the other Names for this Condition? (Also known as/Synonyms)

• Roifman Immunoskeletal Syndrome Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia
• Roifman-Costa Syndrome 
• SPENCDI Syndrome

What is Spondyloenchondrodysplasia with Immune Dysregulation? (Definition/Background Information)

• Spondyloenchondrodysplasia with Immune Dysregulation (SPENCDI) is a rare genetic disorder characterized by short-limbed dwarfism, abnormal growth of the spine and bones, as well as immune dysfunction, leading to recurrent infections. The condition primarily affects young children
• Spondyloenchondrodysplasia with Immune Dysregulation disorder is caused by a mutation in the ACP5 gene. The disorder is transmitted in an autosomal recessive manner. Having a family history of the disorder may increase one’s risk for developing SPENCDI
• A diagnosis of the disorder may involve healthcare specialists, such as a pediatrician and geneticist, and may include assessment of the child’s symptoms, physical examination, family history evaluation, laboratory tests, and genetic testing
• The treatment of Spondyloenchondrodysplasia with Immune Dysregulation may include the administration of antibiotics and other medications to treat and prevent infections, physical therapy to help with muscle weakness and joint stiffness, and surgery to correct skeletal abnormalities
• The prognosis for individuals varies depending on the severity of the disorder and the effectiveness of treatment. With early management of Spondyloenchondrodysplasia with Immune Dysregulation, most individuals are able to manage their symptoms and prevent long-term complications such as chronic fatigue, joint stiffness, and pain

Who gets Spondyloenchondrodysplasia with Immune Dysregulation? (Age and Sex Distribution)

• Spondyloenchondrodysplasia with Immune Dysregulation primarily affects infants and children, although it can also occur in older adults
• It is a rare disorder (of unknown frequency) that affects both males and females equally
• Worldwide, cases have been reported in Caucasians, Hispanics, and Japanese individuals. Presently, no specific ethnic predilection is observed

What are the Risk Factors for Spondyloenchondrodysplasia with Immune Dysregulation? (Predisposing Factors)

• The main risk factor for developing Spondyloenchondrodysplasia with Immune Dysregulation includes having a positive family history of SPENCDI

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others. 

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Spondyloenchondrodysplasia with Immune Dysregulation? (Etiology)

Spondyloenchondrodysplasia with Immune Dysregulation (SPENCDI) is a genetic disorder caused by mutation in the ACP5 gene.

• This gene codes for an important enzyme crucial for regulating activity in bone cells and some immune cells
• These two locations explain the linked signs and symptoms in the skeletal and infection-fighting systems
• SPENCDI is transmitted as an autosomal recessive condition

Autosomal recessive mode of inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Spondyloenchondrodysplasia with Immune Dysregulation?

The signs and symptoms of Spondyloenchondrodysplasia with Immune Dysregulation may include:

• Short-limbed dwarfism
• Abnormal growth of the spine and bones
• Immune dysfunction, which can lead to recurrent infections, notably pneumonia and upper airway infections
• Increased or decreased skin pigmentation

The earliest noted signs/symptoms may include recurrent respiratory infections, cartilage and bony deformities, low-set ears, and a pointy nose.

How is Spondyloenchondrodysplasia with Immune Dysregulation Diagnosed?

Spondyloenchondrodysplasia with Immune Dysregulation is diagnosed by a geneticist or pediatric specialist based on:

• Clinical examination and medical history evaluation
• Assessment of one’s signs and symptoms
• Laboratory test results: Most frequently abnormal lab results are decreased T-cells, other immune system tests, low platelets, and low thyroid
• Genetic testing for mutations in the ACP5 gene

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Spondyloenchondrodysplasia with Immune Dysregulation?

The complications of Spondyloenchondrodysplasia with Immune Dysregulation may include:

• Recurrent infections
• Restrictive lung disease/pulmonary fibrosis
• Joint stiffness and pain
• Chronic fatigue
• Short stature
• Idiopathic thrombocytopenic purpura (ITP)
• Systemic lupus erythematosus (SLE) and other autoimmune diseases

How is Spondyloenchondrodysplasia with Immune Dysregulation Treated?

The treatment for Spondyloenchondrodysplasia with Immune Dysregulation may include: 

• Antibiotics and other medications to treat and prevent infections
• Physical therapy to help with muscle weakness and joint stiffness
• Surgery to correct skeletal abnormalities

How can Spondyloenchondrodysplasia with Immune Dysregulation be Prevented?

• Spondyloenchondrodysplasia with Immune Dysregulation is a genetic disorder and currently, there are no available measures to prevent the disorder
• Genetic counseling may be recommended for individuals with a family history of the disorder

What is the Prognosis of Spondyloenchondrodysplasia with Immune Dysregulation? (Outcomes/Resolutions)

• The prognosis for individuals with Spondyloenchondrodysplasia with Immune Dysregulation varies depending on the severity of the disorder and the effectiveness of treatment
• With early diagnosis and treatment, most individuals are able to manage their symptoms and prevent long-term complications

Additional and Relevant Useful Information for Spondyloenchondrodysplasia with Immune Dysregulation:

The following link is a useful resource for further information on rare diseases and disorders:

https://www.dovemed.com/diseases-conditions/rare-disorders/