Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in the chromosome regions, one localised to chromosome 1 and the other to chromosome 14.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia | |
| fr | Syndrome de déficience intellectuelle sévère-épilepsie-anomalies anales-hypoplasie des phalanges | |
| de | Schwere Intelligenzminderung-Epilepsie-Analanomalien-Hypoplastische distale Phalangen | |
| es | Discapacidad intelectual grave-epilepsia-anomalías del ano-hipoplasia de las falanges distales | |
| it | Disabilità cognitiva grave-epilessia-anomalie anali-ipoplasia delle falangi distali | |
| nl | Ernstige intellectuele achterstand - epilepsie - anale anomalieën - distale falangeale hypoplasie-syndroom | |
| pt | Perturbação do desenvolvimento intelectual grave-epilepsia-anomalias anais-hipoplasia das falanges distais | |
| pl | Głęboka niepełnosprawność intelektualna - padaczka - anomalie odbytu - hipoplazja paliczków dystalnych | |
| cs | Syndrom zahrnující těžkou mentální retardaci, epilepsii, anální anomálie a hypoplázie distálních falangů | |
| uk | Тяжка розумова відсталість - епілепсія - аномалії анального отвору - гіпоплазія дистальних фаланг пальців | |
| zh | 重度智力障碍-癫痫-肛门畸形-远端指骨发育不全综合征 | |
| tr | Ağır zihinsel yetersizlik-epilepsi-anal anomaliler-distal falangeal hipoplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0019786 | E | validated | |
| UMLS | C4510007 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 17351347[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17351347[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002714 | Downturned corners of mouth | |
| HP:0004397 | Ectopic anus | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0009835 | Aplasia/Hypoplasia of the distal phalanges of the hand | |
| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | |
| HP:0000175 | Cleft palate | |
| HP:0000272 | Malar flattening | |
| HP:0000303 | Mandibular prognathia | |
| HP:0001357 | Plagiocephaly | |
| HP:0000322 | Short philtrum | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94066
- This record as JSON: /data/d/94066.json