Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome | |
| fr | Syndrome de neuropathie viscérale-anomalies cérébrales-dysmorphie-retard du développement | |
| de | Viszerale Neuropathie-Gehirnanomalien-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom | |
| es | Síndrome de neuropatía visceral-anomalías cerebrales-dismorfia facial-retraso del desarrollo | |
| it | Sindrome neuropatia viscerale-anomalie cerabrali-dismorfismi facciali-ritardo dello sviluppo | |
| nl | Viscerale neuropathie - hersenanomalieën - faciale dysmorfie - ontwikkelingsachterstand-syndroom | |
| pt | Síndrome de neuropatia visceral-anomalias do cérebro-dismorfia facial-perturbação do desenvolvimento | |
| pl | Neuropatia narządowa - anomalie mózgu - dysmorfia twarzy - opóźnienie rozwoju | |
| cs | Syndrom zahrnující viscerální neuropatii, anomálie mozku, faciální dysmorfismus a opožděný vývoj | |
| uk | Синдром вісцеральної нейропатії-аномалії розвитку головного мозку-дисморфізму обличчя-затримки розвитку | |
| zh | 内脏神经病变-脑异常-面部畸形-发育迟缓综合征 | |
| tr | Viseral nöropati-beyin anomalileri-fasiyal dismorfizm-gelişme geriliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0019133 | E | validated | |
| UMLS | C4304402 | 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: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:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
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 | 2 cases | Worldwide | Case(s) | Validated | 16378921[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16378921[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
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000337 | Broad forehead | |
| HP:0002514 | Cerebral calcification | |
| HP:0002019 | Constipation | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0010956 | Fetal megacystis | |
| HP:0001263 | Global developmental delay | |
| HP:0004389 | Intestinal pseudo-obstruction | |
| HP:0000343 | Long philtrum | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000278 | Retrognathia | |
| HP:0000486 | Strabismus | |
| HP:0001770 | Toe syndactyly | |
| Frequent (79-30%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0000028 | Cryptorchidism | |
| HP:0006101 | Finger syndactyly | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0007678 | Lacrimal duct stenosis | |
| HP:0001601 | Laryngomalacia | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000411 | Protruding ear | |
| HP:0000508 | Ptosis | |
| HP:0004279 | Short palm | |
| HP:0045075 | Sparse eyebrow | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 16378921[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/73246
- This record as JSON: /data/d/73246.json