Lissencephaly type 3-familial fetal akinesia sequence syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lissencephaly type 3-familial fetal akinesia sequence syndrome | |
| fr | Syndrome de lissencéphalie type 3-séquence d'akinésie foetale familiale | |
| de | Lissenzephalie Typ 3-familiäre fetale Akinesie-Sequenz-Syndrom | |
| es | Síndrome de lisencefalia tipo 3-secuencia de aquinesia fetal familiar | |
| it | Lissencefalia tipo 3 - sequenza dell'acinesia fetale familiare | |
| nl | Lissencefalie type 3 - familiale foetale akinesie sequentie-syndroom | |
| pt | Síndrome de lisencefalia tipo 3-sequência de acinesia fetal familiar | |
| pl | Lizencefalia typu 3 - rodzinna sekwencja akinezji płodu | |
| cs | Syndrom zahrnující lissencefalii typu 3 a sekvenci familiární fetální akineze | |
| uk | Синдром лісенцефалії 3-го типу-сімейної послідовності акінезії плода | |
| zh | 无脑回畸形3型-家族性胎儿运动机能丧失序列综合征 | |
| tr | Lizensefali tip 3-ailesel fetal akinezi dizi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601160 | NTBT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0019449 | E | validated | |
| UMLS | C4305255 | 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:102011Lissencephaly type 3
rare developmental anomalies during embryogenesis; rare genetic diseases; 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 | 5 cases | Worldwide | Case(s) | Validated | 8779318[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8779318[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/86821
- This record as JSON: /data/d/86821.json