Porencephaly-cerebellar hypoplasia-internal malformations syndrome
historical
Synonyms: Bonnemann-Meinecke syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- historical
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Porencephaly-cerebellar hypoplasia-internal malformations syndrome | Bonnemann-Meinecke syndrome |
| fr | Syndrome de porencéphalie-hypoplasie cérébelleuse-malformations internes | Syndrome de Bonnemann-Meinecke |
| de | Porenzephalie-zerebelläre Hypoplasie-interne Fehlbildungen-Syndrom | Bonnemann-Meinecke-Syndrom |
| es | Síndrome de porencefalia-hipoplasia cerebelosa-malformaciones internas | Síndrome de Bonnemann-Meinecke |
| it | Porencefalia - ipoplasia cerebellare - malformazioni interne | Sindrome di Bonnemann-Meinecke |
| nl | Porencefalie - cerebellaire hypoplasie - inwendige misvormingen | Bonnemann-Meinecksyndroom |
| pt | Síndrome de porencefalia-hipoplasia cerebelosa-malformações internas | Síndrome Bonnemann-Meinecke |
| pl | Porencefalia - hipoplazja możdżku - malformacje wewnętrzne | Zespół Bonnemanna i Meinecke'a |
| cs | Syndrom zahrnující porencefalii, mozečkovou hypoplázii a vnitřní malformace | Bonnemannové-Meineckeův syndrom · Bonnemann-Meineckeův syndrom |
| uk | Синдром поренцефалії-гіпоплазії мозочка-внутрішніх вад розвитку | Синдром Боннемана-Мейнеке |
| zh | 脑穿通畸形-小脑发育不全-内部结构畸形综合征 | Bonnemann-Meinecke综合征 |
| tr | Porensefali-serebellar hipoplazi-internal malformasyon sendromu | Bonnemann-Meinecke sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601322 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0011036 | E | validated | |
| UMLS | C0796119 | E | validated | |
| GARD | 4437 | 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:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; 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 | 2 cases | Worldwide | Case(s) | Validated | 8737647[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8737647[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/2941
- This record as JSON: /data/d/2941.json