Spondyloenchondrodysplasia with immune dysregulation

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Other Names:

SPENCD; SEM; Spondylometaphyseal dysplasia with enchondromatous changes; SPENCD; SEM; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondromatosis; Spondyloenchondrodysplasia See More

Categories:

Congenital and Genetic Diseases; Immune System Diseases; Musculoskeletal Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 1855

Definition

Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.

Visit the Orphanet disease page for more resources.

Last updated: 2/1/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Antinuclear antibody positivity		0003493
Metaphyseal dysplasia		0100255
Platyspondyly	Flattened vertebrae	0000926
30%-79% of people have these symptoms
Anti-DNA antibody positivity		0020151
Brain imaging abnormality		0410263
Chronic kidney disease		0012622
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
5%-29% of people have these symptoms
Abnormality of lateral ventricle		0030047
Abnormality of the periventricular white matter		0002518
Autoimmune hemolytic anemia		0001890
Autoimmune thrombocytopenia		0001973
Bowing of the legs	Bowed legs Bowed lower limbs [ more ]	0002979
Cerebral calcification	Abnormal deposits of calcium in the brain	0002514
Chorea		0002072
Delayed eruption of teeth	Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ]	0000684
Dental malocclusion	Bad bite Malalignment of upper and lower dental arches Misalignment of upper and lower dental arches [ more ]	0000689
Disproportionate short-trunk short stature	Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ]	0003521
Enchondroma		0030038
Global developmental delay		0001263
Granuloma		0032252
Headache	Headaches	0002315
Hematuria	Blood in urine	0000790
Hepatitis	Liver inflammation	0012115
Hypertension		0000822
Hypoplastic ilia		0000946
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Juvenile rheumatoid arthritis		0005681
Limb undergrowth	limb shortening Short limb Short limbs [ more ]	0009826
Lower limb pain	Leg pain	0012514
Motor delay		0001270
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Raynaud phenomenon		0030880
Recurrent infections	Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ]	0002719
Short distal phalanx of finger	Short outermost finger bone	0009882
Systemic lupus erythematosus		0002725
Vasculitis	Inflammation of blood vessel	0002633
Ventriculomegaly		0002119
1%-4% of people have these symptoms
Growth hormone deficiency		0000824
Hypothyroidism	Underactive thyroid	0000821
Kyphosis	Hunched back Round back [ more ]	0002808
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Pancytopenia	Low blood cell count	0001876
Pectus carinatum	Pigeon chest	0000768
Pneumonia		0002090
Seizure		0001250
Skin rash		0000988
Vitiligo	Blotchy loss of skin color	0001045

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.

European Skeletal Dysplasia Network
Institute of Genetic Medicine
Newcastle University
International Centre for Life
Central Parkway
New Castle upon Tyne
NE1 3BZ, United Kingdom
E-mail: info@esdn.org
Website: http://www.esdn.org/eug/Home

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Spondyloenchondrodysplasia with immune dysregulation. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Spondyloenchondrodysplasia with immune dysregulation:
International Skeletal Dysplasia Registry (ISDR)

Greenberg Center for Skeletal Dysplasias
Johns Hopkins University
McKusick-Nathans Institute of Genetic Medicine
600 North Wolfe Street
Baltimore, MD 21287
Telephone: 410-614-0977
Website: https://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinics/about/greenberg-center-skeletal-dysplasia/

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Spondyloenchondrodysplasia with immune dysregulation. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

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