Neuhauser-Eichner-Opitz syndrome
historical
Synonyms: Recurrent encephalophathy of childhood
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- historical
A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neuhauser-Eichner-Opitz syndrome | Recurrent encephalophathy of childhood |
| fr | Syndrome de Neuhauser-Eichner-Opitz | Encéphalopathie récurrente infantile |
| de | Neuhauser-Eichner-Opitz-Syndrom | Enzephalopathie, rekurrente infantile |
| es | Síndrome de Neuhauser-Eichner-Opitz | Encefalopatía recurente de la infancia |
| it | Sindrome di Neuhauser-Eichner-Opitz | Encefalopatia ricorrente infantile |
| nl | Syndroom van Neuhauser-Eichner-Opitz | Terugkerende encefalophathie in de kinderjaren |
| pt | Síndrome Neuhauser-Eichner-Opitz | Encefalopatia recorrente infantil |
| pl | Zespół Neuhausera, Eichnera i Opitza | Nawracająca encefalopatia dziecięca |
| cs | Neuhauserův-Eichnerův-Opitzův syndrom | Rekurentní dětská encefalopatie · Neuhauser-Eichner-Opitzův syndrom |
| uk | Синдром Нойхаузера-Ейхнера-Опітца | Рецидивуюча енцефалопатія дитячого віку |
| zh | Neuhauser-Eichner-Opitz综合征 | 儿童复发性脑病 |
| tr | Neuhauser-Eichner-Opitz sendromu | Tekrarlayan çocukluk çağı ensefalofatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 130950 | E | validated | |
| ICD-10 | G93.4 | NTBT | attributed | validated |
| MONDO | 0007539 | E | validated | |
| MeSH | C536407 | E | validated | |
| UMLS | C1851708 | 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:183518Hereditary ataxia
rare genetic diseases; rare neurological 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 | 5 cases | Worldwide | Case(s) | Validated | 6859111[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6859111[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
14 annotations · validated 2017-09-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0001276 | Hypertonia | |
| HP:0003552 | Muscle stiffness | |
| HP:0002063 | Rigidity | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001284 | Areflexia | |
| HP:0001265 | Hyporeflexia | |
| HP:0001382 | Joint hypermobility | |
| Occasional (29-5%) | ||
| HP:0002381 | Aphasia | |
| HP:0000708 | Atypical behavior | |
| HP:0010529 | Echolalia | |
| HP:0001252 | Hypotonia | |
| HP:0002300 | Mutism | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2672
- This record as JSON: /data/d/2672.json