Iniencephaly
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neural tube defect characterized by an abnormally short neck, with extreme retroflexion of the head and upward turned face resulting from involvement of the occiput and the inion, which are variably combined with rachischisis of the upper cervical and thoracic spine, leading to the incomplete closure of the vertebral arches and/or even their absence. Patients frequently present with malformations of the central nervous system (spina bifida and/or anencephaly), marked lordosis, and appear to have no neck as the skin of the head is continuous with the chest and the back.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Iniencephaly | |
| fr | Iniencéphalie | |
| de | Inienzephalie | |
| es | Iniencefalia | |
| it | Iniencefalia | |
| nl | Iniëncefalie | |
| pt | Iniencefalia | |
| pl | Iniencefalia | |
| cs | Iniencefalie | |
| uk | Ініенцефалія | |
| zh | 枕骨裂脑露畸形 | |
| tr | İniensefali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q00.2 | E | specific | validated |
| ICD-11 | LA00.1 | E | specific | validated |
| MONDO | 0018968 | E | validated | |
| UMLS | C0152234 | E | validated | |
| GARD | 10506 | E | validated | |
| MedDRA | 10022034 | 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:268843Malformation of the neurenteric canal, spinal cord and column
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 50 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | 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
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008905 | Rhizomelia | |
| HP:0010301 | Spinal dysraphism | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0008465 | Absent vertebrae | |
| HP:0002323 | Anencephaly | |
| HP:0001543 | Gastroschisis | |
| HP:0001360 | Holoprosencephaly | |
| HP:0003307 | Hyperlordosis | |
| HP:0000369 | Low-set ears | |
| HP:0009939 | Mandibular aplasia | |
| HP:0000160 | Narrow mouth | |
| HP:0001561 | Polyhydramnios | |
| HP:0001838 | Rocker bottom foot | |
| HP:0002414 | Spina bifida | |
| Occasional (29-5%) | ||
| HP:0000078 | Abnormality of the genital system | |
| HP:0012294 | Abnormality of the occipital bone | |
| HP:0002023 | Anal atresia | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000476 | Cystic hygroma | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0002247 | Duodenal atresia | |
| HP:0002084 | Encephalocele | |
| HP:0000238 | Hydrocephalus | |
| HP:0001339 | Lissencephaly | |
| HP:0002475 | Myelomeningocele | |
| HP:0001539 | Omphalocele | |
| HP:0000202 | Orofacial cleft | |
| HP:0000104 | Renal agenesis | |
| HP:0003396 | Syringomyelia | |
| HP:0001762 | Talipes equinovarus | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/63259
- This record as JSON: /data/d/63259.json