Spondylometaphyseal dysplasia, Sedaghatian type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare spondylodysplastic dysplasia characterized by severe neonatal hypotonia, spondylometaphyseal dysplasia, cardiac arrhythmia, and central nervous system anomalies leading to death in the first days of life due to cardiorespiratory failure. Skeletal anomalies include irregular appearance of the iliac crest and bone, abnormal long bones of the extremities (including shortening, widening and cupping), and increased intervertebral disc space. Visceral anomalies include subendocardial myocarditis, myocardial necrosis, adrenal and pulmonary hemorrhage. Cranial magnetic resonance imaging reveals intracranial abnormalities such as simplified gyral pattern, hypogenesis of the corpus callosum, and cerebellar hypoplasia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylometaphyseal dysplasia, Sedaghatian type | |
| fr | Dysplasie spondylo-métaphysaire type Sedaghatian | |
| de | Dysplasie, spondylometaphysäre, Typ Sedaghatian | |
| es | Displasia espondilometafisaria tipo Sedaghatian | |
| it | Displasia spondilometafisaria, tipo Sedaghatian | |
| nl | Spondylometafysaire dysplasie, Sedaghatian-type | |
| pt | Displasia espondilometafisária, tipo Sedaghatian | |
| pl | Dysplazja kręgosłupowo-przynasadowa typu Sedaghatian | |
| cs | Spondylometafyzární dysplázie, Sedaghatianův typ | |
| uk | Спондилометафізарна дисплазія, тип Седагатіана | |
| zh | 脊椎干骺端发育不良， Sedaghatian 型 | |
| tr | Spondilometafizyal displazi, Sedaghat tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250220 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.5Y | NTBT | index | validated |
| MONDO | 0009593 | E | validated | |
| MeSH | C535798 | E | validated | |
| UMLS | C1855229 | E | validated | |
| GARD | 4993 | 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 (1):
- ORPHA:93434Spondylodysplastic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GPX4 | Disease-causing germline mutation(s) in | Assessed | HGNC:4556 | ENSG00000167468 | 138322 | 19p13.3 | glutathione peroxidase 4 | 24706940[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0000782 | Abnormality of the scapula | |
| HP:0011675 | Arrhythmia | |
| HP:0001678 | Atrioventricular block | |
| HP:0006543 | Cardiorespiratory arrest | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0003498 | Disproportionate short stature | |
| HP:0008786 | Iliac crest serration | |
| HP:0003085 | Long fibula | |
| HP:0005871 | Metaphyseal chondrodysplasia | |
| HP:0000926 | Platyspondyly | |
| HP:0004991 | Rhizomelic arm shortening | |
| HP:0010049 | Short metacarpal | |
| HP:0004279 | Short palm | |
| HP:0002657 | Spondylometaphyseal dysplasia | |
| Frequent (79-30%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000774 | Narrow chest | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000262 | Turricephaly | |
| Occasional (29-5%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0012819 | Myocarditis | |
| HP:0001302 | Pachygyria | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 16892303[PMID]_24706940[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93317
- This record as JSON: /data/d/93317.json