Lateral meningocele syndrome
Synonyms: Lehman syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lateral meningocele syndrome | Lehman syndrome |
| fr | Syndrome de méningocèle latérale | Syndrome de Lehman |
| de | Syndrom der lateralen Meningozele | Lehman-Syndrom |
| es | Síndrome del meningocele lateral | Síndrome de Lehman |
| it | Sindrome del meningocele laterale | Sindrome di Lehman |
| nl | Laterale meningocele-syndroom | Syndroom van Lehman |
| pt | Síndrome de meningocelo lateral | Síndrome Lehman |
| pl | Zespół bocznej przepukliny oponowej | Zespół Lehmana |
| cs | Syndrom laterální meningokély | Lehmanův syndrom |
| uk | Синдром латерального менінгоцеле | Синдром Лемана |
| zh | 外侧脑膜膨出综合征 | Lehman综合征 |
| tr | Lateral meningosel sendromu | Lehman sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 130720 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LA07.Y | NTBT | index | validated |
| MONDO | 0007537 | E | validated | |
| MeSH | C537878 | E | validated | |
| UMLS | C1851710 | E | validated | |
| GARD | 9873 | 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NOTCH3 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:7883 | ENSG00000074181 | 600276 | 19p13.12 | notch receptor 3 | 25394726[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 23696373[PMID]_24311540[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
41 annotations · validated 2017-09-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000268 | Dolichocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0100775 | Dural ectasia | |
| HP:0002705 | High, narrow palate | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0002435 | Meningocele | |
| HP:0000347 | Micrognathia | |
| HP:0000275 | Narrow face | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0002645 | Wormian bones | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0004452 | Abnormality of the middle ear ossicles | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0000678 | Dental crowding | |
| HP:0000023 | Inguinal hernia | |
| HP:0001382 | Joint hypermobility | |
| HP:0002162 | Low posterior hairline | |
| HP:0000767 | Pectus excavatum | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0000319 | Smooth philtrum | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0002308 | Chiari malformation | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0003307 | Hyperlordosis | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0000612 | Iris coloboma | |
| HP:0002808 | Kyphosis | |
| HP:0000520 | Proptosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003396 | Syringomyelia | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2789
- This record as JSON: /data/d/2789.json