Diaphanospondylodysostosis
Synonyms: DSD
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diaphanospondylodysostosis | DSD |
| fr | Dysostose diaphano-spondylaire | DSD · Diaphano-spondylo-dysostose |
| de | Diaphanospondylodysostose | = en |
| es | Diafanoespondilodisostosis | |
| it | Diafanospondilodisostosi | = en |
| nl | Diafanospondylodysostose | = en |
| pt | Diafanospodilodisostose | = en |
| pl | Diafanospondylodysostoza | = en |
| cs | Diafanospondylodysostóza | = en |
| uk | Діафаноспондилодизостоз | = en |
| zh | 透明脊椎骨发育不全 | |
| tr | Diafanospondilodisostoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608022 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.5Y | NTBT | index | validated |
| MONDO | 0011946 | E | validated | |
| MeSH | C564305 | E | validated | |
| UMLS | C1842691 | 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 (2):
- ORPHA:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93434Spondylodysplastic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:85200Ischio-vertebral syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BMPER | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24154 | ENSG00000164619 | 608699 | 7p14.3 | BMP binding endothelial regulator | 20869035[PMID]_21990102[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 26467725[PMID]_21990102[PMID]_22581610[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26467725[PMID]_21990102[PMID]_22581610[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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005640 | Abnormal vertebral segmentation and fusion | |
| HP:0004599 | Absent or minimally ossified vertebral bodies | |
| HP:0100625 | Enlarged thorax | |
| HP:0000921 | Missing ribs | |
| HP:0005562 | Multiple renal cysts | |
| HP:0002475 | Myelomeningocele | |
| HP:0003275 | Narrow pelvis bone | |
| HP:0002098 | Respiratory distress | |
| HP:0000470 | Short neck | |
| HP:0010306 | Short thorax | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/66637
- This record as JSON: /data/d/66637.json