Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- historical
A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal <i>in utero</i> or shortly after birth. There have been no further descriptions in the literature since 1978.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome | |
| fr | Syndrome d'ostéogenèse imparfaite-microcéphalie-cataracte | |
| de | Osteogenesis imperfecta-Mikrozephalie-Katarakt-Syndrom | |
| es | Síndrome de osteogénesis imperfecta-microcefalia-cataratas | |
| it | Sindrome osteogenesi imperfetta congenita-microcefalia-cataratta | |
| nl | Congenitale osteogenesis imperfecta - microcefalie - cataracten-syndroom | |
| pt | Síndrome de osteogenesis imperfecta congénita-microcefalia-cataratas | |
| pl | Wrodzona łamliwość kości - małogłowie - zaćma | |
| cs | Syndrom zahrnující osteogenesis imperfecta, mikrocefalii a kataraktu | |
| uk | Синдром вродженого недосконалого остеогенезу - мікроцефалії - катаракти | |
| zh | 先天性成骨不全-小头畸形-白内障综合征 | |
| tr | Doğumsal osteogenezis imperfekta-mikrosefali-katarakt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259410 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | index | validated |
| MONDO | 0009803 | E | validated | |
| MeSH | C537558 | E | validated | |
| UMLS | C1850184 | 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 (4):
- ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic 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 | 728577[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_728577[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000518 | Cataract | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0002983 | Micromelia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002757 | Recurrent fractures | |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0000592 | Blue sclerae | |
| HP:0005474 | Decreased calvarial ossification | |
| HP:0000316 | Hypertelorism | |
| HP:0001195 | Single umbilical artery | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0000028 | Cryptorchidism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0001382 | Joint hypermobility | |
| HP:0001629 | Ventricular septal defect | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2772
- This record as JSON: /data/d/2772.json