Spondyloenchondrodysplasia with immune dysregulation
MONDO:0011939Mondo
Findings
No curated finding names Spondyloenchondrodysplasia with immune dysregulation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
67 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Metaphyseal wideningHPOHP:0003016
- 4 of 4 reported patients
- Short statureHPOHP:0004322
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- PlatyspondylyHPOHP:0000926
- 28 of 29 reported patients
- Very frequent (80% to 99% of cases)
- Metaphyseal dysplasiaHPOHP:0100255
- 24 of 25 reported patients
- Very frequent (80% to 99% of cases)
- Antinuclear antibody positivityHPOHP:0003493
- 21 of 22 reported patients
- Very frequent (80% to 99% of cases)
- Joint swellingHPOHP:0001386
- 3 of 4 reported patients
- Lumbar hyperlordosisHPOHP:0002938
- 3 of 4 reported patients
- Short iliac bonesHPOHP:0100866
- 3 of 4 reported patients
- Cerebral calcificationHPOHP:0002514
- 9 of 14 reported patients
- Occasional (5% to 29% of cases)
- Anti-dsDNA antibody positivityHPOHP:0020151
- Frequent (30% to 79% of cases)
- AutoimmunityHPOHP:0002960
- Frequent (30% to 79% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Frequent (30% to 79% of cases)
Show the remaining 55
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- 11 of 25 reported patients
- Frequent (30% to 79% of cases)
- Barrel-shaped chestHPOHP:0001552
- 2 of 4 reported patients
- Increased intervertebral spaceHPOHP:0030320
- 2 of 4 reported patients
- Midface retrusionHPOHP:0011800
- 2 of 4 reported patients
- Very rare (1% to 4% of cases)
- Mild intellectual disabilityHPOHP:0001256
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACP5HGNC:124
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: Spondyloenchondrodysplasia with immune dysregulation
- Also called
- combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasiaRoifman Immunoskeletal syndromeSPENCDSPENCDIspondyloenchondrodysplasiaspondyloenchondromatosisspondylometaphyseal dysplasia with combined immunodeficiencyspondylometaphyseal dysplasia with enchondromatous changes