Cobblestone lissencephaly
Synonyms: Lissencephaly type 2
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cobblestone lissencephaly | Lissencephaly type 2 |
| fr | Lissencéphalie pavimenteuse | Lissencéphalie type 2 |
| de | Cobblestone-Lissenzephalie | Kopfsteinpflaster-Dysplasie · Lissenzephalie Typ 2 |
| es | Lisencefalia en empedrado | Lisencefalia tipo 2 |
| it | Lissencefalia con aspetto acciottolato | Lissencefalia, tipo 2 |
| nl | Cobblestone-lissencefalie | Lissencefalie type 2 |
| pt | Lisencefalia tipo 2 | Lisencefalia com aspeto de seixo |
| pl | Lizencefalia o typie kostki brukowej | Lizencefalia typu 2 |
| cs | Lissencefalie, typ 2 | Cobblestone lissencefalie |
| uk | Лізенцефалія у вигляді бруківки | Лісенцефалія 2 типу |
| zh | 鹅卵石无脑回畸形 | 无脑回畸形2型 |
| tr | Arnavut kaldırımı lizensefali | Lizensefali tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0018869 | E | validated | |
| MONDO | 18869 | E | validated | |
| MeSH | D054222 | E | validated | |
| UMLS | C0431376 | E | validated | |
| GARD | 3277 | 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:48471Lissencephaly
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 | 1-9 / 100 000 | 1 / 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/51577
- This record as JSON: /data/d/51577.json