Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Synonyms: Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adolescent, Adult
- Status
- active
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteosclerosis-ichthyosis-premature ovarian failure syndrome | Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome |
| fr | Syndrome d'ostéosclérose-ichtyose-insuffisance ovarienne précoce | Syndrome de dysplasie sclérosante des os-ichtyose-ménopause précoce |
| de | Osteosklerose-Ichthyose-vorzeitige Ovarialinsuffizienz-Syndrom | Syndrom der sklerosierenden Knochendysplasie mit Ichthyose und vorzeitiger Ovarialinsuffizienz |
| es | Síndrome de osteosclerosis-ictiosis-fallo ovárico prematuro | Displasia esclerosante de esqueleto-ictiosis-fallo ovárico prematuro · Displasia esclerosante del hueso-ictiosis-fallo ovárico prematuro |
| it | Sindrome disabilità intellettiva-debolezza muscolare-bassa statura-dismorfismi facciali | Displasia ossea sclerosante - ittiosi - insufficienza ovarica precoce |
| nl | Osteosclerose - ichthyosis - vroegtijdig ovariumfalen-syndroom | Scleroserende dysplasie van het bot - ichthyosis - vroegtijdig ovariumfalen-syndroom |
| pt | Síndrome de osteosclerose-ictiose-insuficiência ovárica precoce | Síndrome de displasia esclerosante do osso-ictiose-insuficiência ovárica precoce |
| pl | Osteoskleroza - rybia łuska - przedwczesne wygasanie czynności jajników | Stwardniająca dysplazja kości - rybia łuska - przedwczesne wygasanie czynności jajników |
| cs | Syndrom zahrnující osteosklerózu, ichtyózu a předčasné ovariální selhání | Syndrom zahrnující sklerotizující dysplázii kostí, ichtyózu a předčasné ovariální selhání |
| uk | Синдром остеосклерозу-іхтіозу-передчасного виснаження яєчників | Синдром склерозуючої дисплазії кісток-іхтіозу- передчасного виснаження яєчників |
| zh | 骨硬化-鱼鳞癣-卵巢早衰综合征 | 骨硬化性发育不良-鱼鳞癣-卵巢早衰综合征 |
| tr | Osteoskleroz-iktiyoz-prematüre over yetmezliği sendromu | Kemik iktiyozu-erken yumurtalık yetmezliği sendromunun sklerozan displazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609993 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0012387 | E | validated | |
| MeSH | C536064 | E | validated | |
| UMLS | C4302815 | E | validated | |
| GARD | 9904 | 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 (6):
- ORPHA:281244Autosomal ichthyosis syndrome with other associated signs
rare genetic diseases; rare skin diseases - ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:399853Rare female infertility due to an anomaly of ovarian function
rare infertility disorders - ORPHA:400022Rare female infertility due to an anomaly of ovarian function of genetic origin
rare genetic diseases - ORPHA:485382Rare genetic premature ovarian failure
rare genetic diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric 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 | 3 cases | Worldwide | Case(s) | Validated | 15995452[PMID] | |
| 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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008064 | Ichthyosis | |
| HP:0011001 | Increased bone mineral density | |
| HP:0010741 | Pedal edema | |
| HP:0008209 | Premature ovarian insufficiency | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75325
- This record as JSON: /data/d/75325.json