Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | |
| fr | Syndrome de lissencéphalie à prédominance postérieure-pont et moelle allongée larges et plats-défauts de croisement de la ligne médiane | |
| de | Vorwiegend posteriore Lissenzephalie mit breiter flacher Pons und Medulla-Mittelliniendefekt | Lissenzephalie Typ 9 mit komplexer Hirnstammfehlbildung |
| es | Síndrome de lisencefalia posterior-puente aplanado y defecto de cruce de la línea media medular | |
| it | Sindrome lissencefalia prevalentemente posteriore, allargamento e appiattimento del ponte e del midollo, difetti dell'incrocio della linea mediana | |
| nl | Overwegend posterieure lissencefalie - brede en platte pons en medulla oblongata - defecten van overschrijden van de middellijn-syndroom | |
| pt | Síndrome de lisencefalia predominantemente posterior-ponte e medula ampla e achatada-defeitos de decussação da linha média | |
| pl | Zespół płaskiego szerokiego mostu pnia mózgu z tylną lizencefalią i wadami poprzecznymi rdzenia w linii środkowej | |
| cs | Syndrom posteriorně-predominantní lisencefalie, širokého plochého mostu a míchy a defektů křížících střední čáru | |
| uk | Синдром задньо-переважаючої лісенцефалії-широкого плоского моста та дефектів перетину серединної лінії мозку | |
| zh | 后部-明显无脑回畸形-宽平脑桥延髓-中线交叉缺损综合征 | |
| tr | Posterior-predominant lizensefali-geniş düz pons ve medulla-orta hat geçiş defektleri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618325 | BTNT | validated | |
| OMIM | 618873 | BTNT | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0032677 | E | validated | |
| UMLS | C5780029 | 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 (3):
- ORPHA:102009Classic lissencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:730696Genetic syndrome with a brainstem malformation as a major feature
rare genetic diseases - ORPHA:729519Syndrome with a brainstem malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CEP85L | Disease-causing germline mutation(s) in | Assessed | HGNC:21638 | ENSG00000111860 | 618865 | 6q22.31 | centrosomal protein 85L | 32097630[PMID] |
| MACF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13664 | ENSG00000127603 | 608271 | 1p34.3 | microtubule actin crosslinking factor 1 | 30471716[PMID]_24507697[PMID]_24932993[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 30471716[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30471716[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
20 annotations · validated 2022-09-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025100 | Abnormal hippocampus morphology | |
| HP:0030301 | Abnormality of the anterior commissure | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0008936 | Axial hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001302 | Pachygyria | |
| Frequent (79-30%) | ||
| HP:0002015 | Dysphagia | |
| HP:0004305 | Involuntary movements | |
| HP:0000486 | Strabismus | |
| HP:0033725 | Thin corpus callosum | |
| Occasional (29-5%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0000324 | Facial asymmetry | |
| HP:0002827 | Hip dislocation | |
| HP:0012469 | Infantile spasms | |
| HP:0032794 | Myoclonic seizure | |
| HP:0000011 | Neurogenic bladder | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0001257 | Spasticity | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 30471716[PMID]_33511591[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/572013
- This record as JSON: /data/d/572013.json