Lethal occipital encephalocele-skeletal dysplasia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal occipital encephalocele-skeletal dysplasia syndrome | |
| fr | Syndrome létal d'encéphalocèle occipital-dysplasie squelettique | |
| de | Letal okzipitale Enzephalozele-Skelettdysplasie-Syndrom | |
| es | Síndrome letal de encefalocele occipital-displasia esquelética | |
| it | Sindrome letale da encefalocele occipitale e displasia scheletrica | |
| nl | Letale occipitale encefalocele - skeletdysplasie-syndroom | |
| pt | Síndrome letal de encefalocelo occipital-displasia esquelética | |
| pl | Śmiertelny zespół przepuklina mózgowa potyliczna-dysplazja szkieletowa | |
| cs | Syndrom zahrnující okcipitální encefalokélu a kosterní dysplázii, letální varianta | |
| uk | Летальний синдром потиличного енцефалоцеле-скелетної дисплазії | |
| zh | 致死性枕脑膨出-骨骼发育不良综合征 | |
| tr | Letal oksipital ensefalosel-iskelet displazisi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614416 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0013740 | E | validated | |
| UMLS | C4751129 | 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:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP26B1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:20581 | ENSG00000003137 | 605207 | 2p13.2 | cytochrome P450 family 26 subfamily B member 1 | 22019272[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 27410456[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27410456[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293925
- This record as JSON: /data/d/293925.json