Hernández-Aguirre Negrete syndrome
Synonyms: Intellectual disability-epilepsy-bulbous nose syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hernández-Aguirre Negrete syndrome | Intellectual disability-epilepsy-bulbous nose syndrome |
| fr | Syndrome de Hernández-Aguirre Negrete | Syndrome de déficience intellectuelle-épilepsie-nez bulbeux |
| de | Hernández-Aguirre-Negrete-Syndrom | |
| es | Síndrome de Hernández-Aguirre Negrete | Síndrome de discapacidad intelectual-epilepsia-nariz bulbosa |
| it | Sindrome di Hernández-Aguirre Negrete | Deficit cognitivo - epilessia - naso globoso · Sindrome deficit cognitivo-epilessia-naso globoso |
| nl | Syndroom van Hernández-Aguirre Negrete | Intellectuele achterstand - epilepsie - knolvormige neus-syndroom |
| pt | Síndrome Hernández-Aguirre-Negrete | Síndrome de perturbação do desnvolvimento intelectual-epilepsia-nariz bolboso |
| pl | Zespół Hernandeza i Aguirre Negrete | Niepełnosprawność intelektualna - padaczka - kartoflowaty nos |
| cs | Hernandézův Aguirre-Negretův syndrom | Syndrom zahrnující mentální retardaci, epilepsii a bulbózní nos · Hernandéz Aguirre-Negretův syndrom |
| uk | Синдром Ернандеса-Агірре Негрете | Синдром інтелектуальної недостатності - епілепсіі - бульбоподібного носа |
| zh | Hernßndez-Aguirre Negrete综合征 | 智力障碍-癫痫-蒜头鼻综合征 |
| tr | Hernßndez-Aguirre Negrete sendromu | Zihinsel yetersizlik-epilepsi-soğan şeklinde burun sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0016290 | E | validated | |
| MeSH | C538112 | E | validated | |
| UMLS | C2931736 | 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 (2):
- 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
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000414 | Bulbous nose | |
| HP:0002002 | Deep philtrum | |
| HP:0002353 | EEG abnormality | |
| HP:0001263 | Global developmental delay | |
| HP:0001513 | Obesity | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000311 | Round face | |
| HP:0001250 | Seizure | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0000823 | Delayed puberty | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2139
- This record as JSON: /data/d/2139.json