Rare Oncology News

Disease Profile

Spondyloenchondrodysplasia with immune dysregulation

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

ageofonset-childhood.svg

ICD-10

Q77.7

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

SPENCD; SEM; Spondylometaphyseal dysplasia with enchondromatous changes;

Categories

Congenital and Genetic Diseases; Immune System Diseases; Musculoskeletal Diseases

Summary

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

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.

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.

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
AntiDNA 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

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.