Spondyloenchondrodysplasia
Synonyms: SPENCD · Spondyloenchondromatosis · Spondylometaphyseal dysplasia with enchondromatous changes
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
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, intellectual disability and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus hemolytic anemia and thyroiditis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloenchondrodysplasia | SPENCD · Spondyloenchondromatosis · Spondylometaphyseal dysplasia with enchondromatous changes |
| fr | Dysplasie spondylo-enchondrale | SPENCD · Spondyloenchondromatose |
| de | Spondyloenchondrodysplasie | SPENCD · Spondyloenchondromatose · Spondylometaphysäre Dysplasie mit enchondromatösen Veränderungen |
| es | Espondiloencondrodisplasia | Espondiloencondromatosis · SPENCD |
| it | Spondiloencondrodisplasia | Displasia spondilometafisaria con alterazioni encondromatose · SPENCD · Spondiloencondromatosi |
| nl | Spondylo-enchondrodysplasie | Spondylometafysaire dysplasie met enchondromateuze veranderingen · SPENCD · Spondylo-enchondromatose |
| pt | Espondilo-encondrodisplasia | |
| pl | Dysplazja kręgowa ze zmianami podobnymi do chrzęstniaków | Spondyloenchondromatoza · Spondylometaphyseal dysplasia with enchondromatous changes · SPENCD |
| cs | Spondyloenchondrodysplázie | SPENCD · Spondyloenchondromatóza · Spondylometafyzeální dysplázie s enchondromatózními změnami |
| uk | Спондилоенхондродисплазія | SPENCD · Спондилоенхондроматоз · Спондилометафізарна дисплазія з енхондроматозними змінами |
| zh | 脊柱内生软骨瘤发育不良 | 脊椎干骺端发育不良伴内生软骨瘤改变 |
| tr | Spondiloenkondrodisplazi | SPENCD · Spondiloenkondromatoz · Enkondromatöz değişiklikler ile seyreden spondilometafizyal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607944 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0011939 | E | validated | |
| MeSH | C535782 | E | validated | |
| UMLS | C0432222 | E | validated | |
| GARD | 4978 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:254Spondylometaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:481671Type 1 interferonopathy of childhood
rare systemic or rheumatologic diseases of childhood
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:50816Spondylometaphyseal dysplasia with combined immunodeficiency moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACP5 | Disease-causing germline mutation(s) in | Assessed | HGNC:124 | ENSG00000102575 | 171640 | 19p13.2 | acid phosphatase 5, tartrate resistant | 21217755[PMID]_21217752[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 36 cases | Worldwide | Case(s) | Validated | 16470600[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16470600[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
52 annotations · validated 2020-08-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0100255 | Metaphyseal dysplasia | |
| HP:0000926 | Platyspondyly | |
| Frequent (79-30%) | ||
| HP:0020151 | Anti-dsDNA antibody positivity | |
| HP:0002960 | Autoimmunity | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0012622 | Chronic kidney disease | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0030047 | Abnormality of lateral ventricle | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001369 | Arthritis | |
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0002979 | Bowing of the legs | |
| HP:0002514 | Cerebral calcification | |
| HP:0002072 | Chorea | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000689 | Dental malocclusion | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0030038 | Enchondroma | |
| HP:0001263 | Global developmental delay | |
| HP:0032252 | Granuloma | |
| HP:0002315 | Headache | |
| HP:0000790 | Hematuria | |
| HP:0012115 | Hepatitis | |
| HP:0000822 | Hypertension | |
| HP:0000946 | Hypoplastic ilia | |
| HP:0001249 | Intellectual disability | |
| HP:0005681 | Juvenile rheumatoid arthritis | |
| HP:0009826 | Limb undergrowth | |
| HP:0012514 | Lower limb pain | |
| HP:0001270 | Motor delay | |
| HP:0003326 | Myalgia | |
| HP:0000093 | Proteinuria | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0002719 | Recurrent infections | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0002725 | Systemic lupus erythematosus | |
| HP:0002633 | Vasculitis | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000821 | Hypothyroidism | |
| HP:0002808 | Kyphosis | |
| HP:0011800 | Midface retrusion | |
| HP:0001876 | Pancytopenia | |
| HP:0000768 | Pectus carinatum | |
| HP:0002090 | Pneumonia | |
| HP:0001250 | Seizure | |
| HP:0000988 | Skin rash | |
| HP:0001045 | Vitiligo | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26854080[PMID]_26951490[PMID]_30558059[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1855
- This record as JSON: /data/d/1855.json