Ankylosing vertebral hyperostosis with tylosis
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- historical
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ankylosing vertebral hyperostosis with tylosis | |
| fr | Hyperostose vertébrale ankylosante avec tylose | |
| de | Hyperostose, ankylosierende vertebrale mit Tylosis | Forestier-Syndrom |
| es | Hiperostosis vertebral anquilosante con tilosis | Enfermedad de Forestier |
| it | Iperostosi vertebrale anchilosante con tilosi | |
| nl | Ankyloserende vertebrale hyperostose met tylose | |
| pt | Hiperostose vertebral anquilosante com tilose | |
| pl | Zesztywniająca hiperostoza kręgów z rogowcem dłoni i stóp | |
| cs | Vertebrální ankylozující hyperostóza s tylózou | |
| uk | Анкілозуючий гіперостоз хребців з тилозом | |
| zh | 强直性椎体肥大伴胼胝形成 | |
| tr | Tiloz ile görülen ankilozan vertebral hiperostoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106400 | E | validated | |
| ICD-10 | M48.1 | NTBT | attributed | validated |
| ICD-11 | LD24.H | NTBT | index | validated |
| MONDO | 0007127 | E | validated | |
| UMLS | C0020498 | E | validated | |
| GARD | 842 | 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:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 5346342[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5346342[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
5 annotations · validated 2017-07-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040163 | Abnormal pelvis bone morphology | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0002758 | Osteoarthritis | |
| Frequent (79-30%) | ||
| HP:0001513 | Obesity | |
| HP:0000982 | Palmoplantar keratoderma | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2206
- This record as JSON: /data/d/2206.json