Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
historical
Synonyms: Al Gazali-Nair syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome | Al Gazali-Nair syndrome |
| fr | Syndrome d'ostéogenèse imparfaite-rétinopathie-épilepsie-déficience intellectuelle | Syndrome d'Al Gazali-Nair |
| de | Osteogenesis imperfecta-Retinopathie-Krämpfe-Intelligenzminderung-Syndrom | Al Gazali-Nair-Syndrom |
| es | Síndrome de osteogénesis imperfecta-retinopatía-crisis-discapacidad intelectual | Síndrome de Al Gazali-Nair |
| it | Sindrome osteogenesi imperfetta-retinopatia-crisi epilettiche-disabilità intellettiva | Sindrome di Al Gazali-Nair |
| nl | Osteogenesis imperfecta - retinopathie - epileptische aanvallen - intellectuele achterstand-syndroom | Syndroom van Al Gazali-Nair |
| pt | Síndrome de osteogenese imperfeita-retinopatia-convulsões-perturbação do desenvolvimento intelectual | Síndrome Al Gazali-Nair |
| pl | Łamliwość kości - retinopatia - napady padaczkowe - niepełnosprawność intelektualna | Zespół Al Gazali i Naira |
| cs | Syndrom zahrnující osteogenesis imperfecta, retinopatii, záchvaty a mentální retardaci | Al Gazaliové-Nairův syndrom · Al Gazali-Nairův syndrom |
| uk | Синдром недосконалого остеогенезу - ретинопатії - судом - інтелектуальної недостатності | Синдром Аль-Газалі-Наїра |
| zh | 成骨不全-视网膜病变-癫痫-智力障碍综合征 | Al Gazali-Nair综合征 |
| tr | Osteogenezis imperfekta-retinopati-nöbetler-zihinsel yetersizlik sendromu | Al Gazali-Nair sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | index | validated |
| MONDO | 0017196 | E | validated | |
| UMLS | C4302824 | E | validated | |
| GARD | 587 | 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 (3):
- 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
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 | 2 cases | Worldwide | Case(s) | Validated | 7515752[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7515752[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0001249 | Intellectual disability | |
| HP:0000648 | Optic atrophy | |
| HP:0002757 | Recurrent fractures | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0002645 | Wormian bones | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2773
- This record as JSON: /data/d/2773.json