ORPHA:93357
SPONASTRIME dysplasia
Synonyms: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia · Spondyloepimetaphyseal dysplasia, Sponastrime type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SPONASTRIME dysplasia | Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia · Spondyloepimetaphyseal dysplasia, Sponastrime type |
| fr | Dysplasie SPONASTRIME | Dysplasie spondylo-méta-épiphysaire type Sponastrime |
| de | SPONASTRIME-Dysplasie | Dysplasie, spondyloepimetaphysäre, Typ Sponastrime · Spondyläre und nasale Veränderungen mit Striae der Metaphyse (SPONASTRIME)-Dysplasie |
| es | Displasia SPONASTRIME | Cambios espondilóticos y nasales con estriaciones de la displasia metafisaria (SPONASTRIME) · Displasia espondilometaepifisaria tipo Sponastrime |
| it | Displasia SPONASTRIME | Displasia spondiloepimetafisaria, tipo Sponastrime · Displasia spondilometaepifisaria, tipo Sponastrime |
| nl | SPONASTRIME-dysplasie | Spondylaire en nasale veranderingen met striae van metafysen (SPONASTRIME)-dysplasie · Spondylo-epimetafysaire dysplasie, Sponastrime-type |
| pt | Displasia SPONASTRIME | |
| pl | Dysplazja SPONASTRIME | Dysplazja kręgowo-nasadowo-przynasadowa, typ Sponastrime |
| cs | SPONASTRIME dysplázie | Spondyloepimetafyzární dysplázie, typ Sponastrime |
| uk | Дисплазія SPONASTRIME | Спондилярні та носові зміни зі смугастою дисплазією метафізів (SPONASTRIME) · Спондилоепіметафізарна дисплазія, тип Sponastrime |
| zh | Sponastrime型脊椎干骺端发育不全 | 脊柱和鼻部变化伴干骺端发育不良，Sponastrime型 |
| tr | SPONASTRIME displazisi | Spondiloepimetafizyal displazi, Sponastrime tipi · Metafiz (SPONASTRIME) displazisinin çizgileri ile seyreden spondiler ve nazal değişiklikler |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271510 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0010068 | E | validated | |
| MeSH | C535786 | E | validated | |
| UMLS | C1300260 | E | validated | |
| GARD | 4970 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TONSL | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7801 | ENSG00000160949 | 604546 | 8q24.3 | tonsoku like, DNA repair protein | 30773278[PMID]_30773277[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 18203204[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18203204[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.
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HPO phenotypes
79 annotations · validated 2021-07-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0011800 | Midface retrusion | |
| HP:0000926 | Platyspondyly | |
| Frequent (79-30%) | ||
| HP:0004586 | Biconcave vertebral bodies | |
| HP:0001156 | Brachydactyly | |
| HP:0002857 | Genu valgum | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0009826 | Limb undergrowth | |
| HP:0003025 | Metaphyseal irregularity | |
| HP:0031367 | Metaphyseal striations | |
| HP:0008905 | Rhizomelia | |
| HP:0100864 | Short femoral neck | |
| HP:0001518 | Small for gestational age | |
| Occasional (29-5%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0010941 | Aplasia of the nasal bone | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0001769 | Broad foot | |
| HP:0001169 | Broad palm | |
| HP:0000518 | Cataract | |
| HP:0002308 | Chiari malformation | |
| HP:0007707 | Congenital aphakia | |
| HP:0002812 | Coxa vara | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0000696 | Delayed eruption of permanent teeth | |
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0000286 | Epicanthus | |
| HP:0003015 | Flared metaphysis | |
| HP:0003370 | Flat capital femoral epiphysis | |
| HP:0003895 | Flattened humeral epiphyses | |
| HP:0002007 | Frontal bossing | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0001263 | Global developmental delay | |
| HP:0002827 | Hip dislocation | |
| HP:0030043 | Hip subluxation | |
| HP:0004603 | Hyperconvex vertebral body endplates | |
| HP:0040221 | Hypoplasia of the dental root | |
| HP:0004646 | Hypoplasia of the nasal bone | |
| HP:0000047 | Hypospadias | |
| HP:0000821 | Hypothyroidism | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0010234 | Ivory epiphyses of the phalanges of the hand | |
| HP:0001382 | Joint hypermobility | |
| HP:0030839 | Knee pain | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001377 | Limited elbow extension | |
| HP:0000276 | Long face | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000303 | Mandibular prognathia | |
| HP:0003027 | Mesomelia | |
| HP:0003016 | Metaphyseal widening | |
| HP:0025492 | Microcoria | |
| HP:0000691 | Microdontia | |
| HP:0030833 | Neck pain | |
| HP:0000639 | Nystagmus | |
| HP:0005446 | Obtuse angle of mandible | |
| HP:0010740 | Osteopathia striata | |
| HP:0001763 | Pes planus | |
| HP:0000826 | Precocious puberty | |
| HP:0011220 | Prominent forehead | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0004482 | Relative macrocephaly | |
| HP:0002650 | Scoliosis | |
| HP:0003182 | Shallow acetabular fossae | |
| HP:0006336 | Short dental roots | |
| HP:0001773 | Short foot | |
| HP:0003026 | Short long bone | |
| HP:0003196 | Short nose | |
| HP:0004279 | Short palm | |
| HP:0030834 | Shoulder pain | |
| HP:0010585 | Small epiphyses | |
| HP:0001607 | Subglottic stenosis | |
| HP:0001621 | Weak voice | |
| HP:0000445 | Wide nose | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30773277[PMID]_30773278[PMID]_32959051[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93357
- This record as JSON: /data/d/93357.json