Lissencephaly with cerebellar hypoplasia
Synonyms: LCH
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lissencephaly with cerebellar hypoplasia | LCH |
| fr | Lissencéphalie avec hypoplasie cérébelleuse | LHC |
| de | Lissenzephalie mit zerebellärer Hypoplasie | = en |
| es | Lisencefalia con hipoplasia cerebelosa | = en |
| it | Lissencefalia con ipoplasia cerebellare | = en |
| nl | Lissencefalie met cerebellaire hypoplasie | = en |
| pt | Lisencefalia com hipoplasia do cerebelo | |
| pl | Lizencefalia z hipoplazją móżdżku | = en |
| cs | Lissencefalie s hypoplázií mozečku | = en |
| uk | Лісенцефалія з гіпоплазією мозочка | = en |
| zh | 无脑回畸形伴小脑发育不全 | = en |
| tr | Serebellar hipoplazi ile seyreden lizensefali | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0019450 | E | validated | |
| MONDO | 19450 | E | validated | |
| UMLS | C4274995 | 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
Children (6):
- ORPHA:100011Lissencephaly with cerebellar hypoplasia type A
- ORPHA:100012Lissencephaly with cerebellar hypoplasia type B
- ORPHA:100013Lissencephaly with cerebellar hypoplasia type C
- ORPHA:100014Lissencephaly with cerebellar hypoplasia type D
- ORPHA:100015Lissencephaly with cerebellar hypoplasia type E
- ORPHA:100016Lissencephaly with cerebellar hypoplasia type F
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 18521588[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/86823
- This record as JSON: /data/d/86823.json