Diencephalic-mesencephalic junction dysplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diencephalic-mesencephalic junction dysplasia | |
| fr | Dysplasie de la jonction diencéphale-mésencéphale | |
| de | Dienzephalisch-mesenzephalisch junktionale Dysplasie | |
| es | Displasia de la unión diencéfalo-mesencefálica | |
| it | Displasia della giunzione diencefalo-mesencefalica | |
| nl | Diëncefale-mesencefale junctiedysplasie | Dysplasie van verbinding tussen diencephalon en mesencephalon |
| pt | Displasia da junção diencéfalo - mesencéfalo | |
| pl | Dysplazja połączenia międzymózgowo-śródmózgowego | |
| cs | Diencefalická-mezencefalická junkční dysplázie | |
| uk | Дисплазія діенцефально-мезенцефального переходу | |
| zh | 间脑-中脑连接发育不良 | |
| tr | Diensefalik-mezensefalik bağlantı displazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251280 | BTNT | validated | |
| OMIM | 618646 | BTNT | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0017868 | E | validated | |
| UMLS | C4707858 | 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 (2):
- ORPHA:269553Genetic cerebral malformation
rare genetic diseases - ORPHA:199633Non-syndromic cerebral malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GSX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:24959 | ENSG00000180613 | 616253 | 4q12 | GS homeobox 2 | 31412107[PMID] |
| PCDH12 | Disease-causing germline mutation(s) in | Assessed | HGNC:8657 | ENSG00000113555 | 605622 | 5q31.3 | protocadherin 12 | 30178464[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 3307411[PMID]_1395086[PMID]_7774041[PMID]_22822038[PMID]_ 30178464[PMID]_39119454[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 3307411[PMID]_1395086[PMID]_7774041[PMID]_22822038[PMID]_ 30178464[PMID]_39119454[PMID]_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/319192
- This record as JSON: /data/d/319192.json