Nathalie syndrome
Synonyms: Deafness-cataract-skeletal anomalies syndrome · Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nathalie syndrome | Deafness-cataract-skeletal anomalies syndrome · Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome |
| fr | Syndrome de Nathalie | Syndrome de surdité-cataracte-anomalies squelettiques |
| de | Nathalie-Syndrom | Schwerhöigkeit-Katarakt-Skelettanomalien-Syndrom · Sensorineuraler Hörverlust-Katarakt-Skelettanomalien-Kardiomyopathie-Syndrom |
| es | Síndrome de Nathalie | Síndrome de hipoacusia neurosensorial-catarata-anomalías esqueléticas-miocardiopatía · Síndrome de sordera-catarata-anomalías esqueléticas |
| it | Sindrome di Nathalie | |
| nl | Syndroom van Nathalie | Doofheid - cataract - skeletale anomalieën-syndroom · Sensorineuraal gehoorverlies - cataract - skeletale anomalieën - cardiomyopathie-syndroom |
| pt | Síndrome Nathalie | Síndrome de perda auditiva neurosensorial-catarata-anomalias ósseas-miocardiopatia · Síndrome surdez-catarata-anomalias ósseas |
| pl | Zespół Nathalie | Głuchota - zaćma - wady szkieletu |
| cs | Natáliin syndrom | Syndrom zahrnující hluchotu, kataraktu a anomálie skeletu |
| uk | Синдром Наталі | Синдром глухоти-катастрофи-скелетних аномалій · Синдром сенсоневральної приглухуватості - катаракти - скелетних аномалій - кардіоміопатії |
| zh | Nathalie综合征 | 感音神经性耳聋-白内障-骨骼异常-心肌病综合征 |
| tr | Nathalie sendromu | Sağırlık-katarakt-iskelet anomalileri sendromu · Sensörinöral işitme kaybı-katarakt-iskelet anomalileri-kardiyomiyopati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 255990 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1 | NTBT | attributed | validated |
| MONDO | 0009721 | E | validated | |
| MeSH | C538342 | E | validated | |
| UMLS | C1850626 | E | validated | |
| GARD | 3929 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related 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 | 1 families | Worldwide | Family(ies) | Validated | 1204231[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1204231[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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0000518 | Cataract | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2663
- This record as JSON: /data/d/2663.json