ORPHA:85194
Spondylo-ocular syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylo-ocular syndrome | |
| fr | Syndrome spondylo-oculaire | |
| de | Spondylo-okuläres Syndrom | |
| es | Síndrome espondilo-ocular | |
| it | Sindrome spondilo-oculare | |
| nl | Spondylo-oculair syndroom | |
| pt | Síndrome espondilo-ocular | |
| pl | Zespół kręgowo-oczny | |
| cs | Spondylookulární syndrom | |
| uk | Спондилоокулярний синдром | |
| zh | 脊柱-眼综合征 | |
| tr | Spondilo-oküler sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605822 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | index | validated |
| MONDO | 0011604 | E | validated | |
| UMLS | C4225412 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:716446Rare disorder with progressive vitreoretinopathy disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:519294Syndromic microspherophakia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| XYLT2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15517 | ENSG00000015532 | 608125 | 17q21.33 | xylosyltransferase 2 | 26027496[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 11260210[PMID]_16470687[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11260210[PMID]_16470687[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.
6
HPO phenotypes
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0005108 | Abnormal intervertebral disk morphology | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0000316 | Hypertelorism | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000939 | Osteoporosis | |
| HP:0000926 | Platyspondyly | |
| HP:0000541 | Retinal detachment | |
| HP:0000470 | Short neck | |
| HP:0002942 | Thoracic kyphosis | |
| HP:0000572 | Visual loss | |
| Frequent (79-30%) | ||
| HP:0008063 | Aplasia/Hypoplasia of the lens | |
| HP:0000518 | Cataract | |
| HP:0000297 | Facial hypotonia | |
| HP:0000568 | Microphthalmia | |
| HP:0001763 | Pes planus | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0009738 | Abnormality of the antihelix | |
| HP:0000974 | Hyperextensible skin | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0000343 | Long philtrum | |
| HP:0002162 | Low posterior hairline | |
| HP:0000369 | Low-set ears | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0004467 | Preauricular pit | |
| HP:0004322 | Short stature | |
| HP:0000391 | Thickened helices | |
| HP:0000233 | Thin vermilion border | |
| HP:0000465 | Webbed neck | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 11260210[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85194
- This record as JSON: /data/d/85194.json