ORPHA:83473
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Synonyms: MPPH syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | MPPH syndrome |
| fr | Syndrome de mégalencéphalie-polymicrogyrie-polydactylie post-axiale-hydrocéphalie | Syndrome MPPH |
| de | Megalenzephalie-Polymikrogyrie-postaxiale Polydaktylie-Hydrozephalus-Syndrom | MPPH-Syndrom |
| es | Síndrome de megalencefalia-polimicrogiria-polidactilia postaxial-hidrocefalia | Síndrome MPPH |
| it | Sindrome megalencefalia-polimicrogiria-polidattilia postassiale-idrocefalo | Sindrome MPPH |
| nl | Megalencefalie - polymicrogyrie - postaxiale polydactylie - hydrocefalus-syndroom | MPPH-syndroom |
| pt | Síndrome de megalencefalia-polimicrogiria-polidactilia pós-axial-hidrocefalia | Síndrome MPPH |
| pl | Mózg olbrzymi - polimikrogyria - polidaktylia zaosiowa - wodogłowie | Zespół MPPH |
| cs | Syndrom zahrnující megalencefalii, polymikrogyrii, postaxiální polydaktylii a hydrocefalus | MPPH syndrom |
| uk | Синдром мегаленцефалії-полімікрогірії-постаксіальної полідактилії-гідроцефалії | Синдром MPPH |
| zh | 巨脑-多小脑回-轴后性多指症-脑积水综合征 | MPPH综合征 |
| tr | Megalensefali-polimikrogri-postaksiyal polidaktili-hidrosefali sendromu | MPPH sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603387 | BTNT | validated | |
| OMIM | 615937 | BTNT | validated | |
| OMIM | 615938 | BTNT | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0019375 | E | validated | |
| UMLS | C4302893 | E | validated | |
| GARD | 10341 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCND2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:1583 | ENSG00000118971 | 123833 | 12p13.32 | cyclin D2 | 24705253[PMID] |
| AKT3 | Disease-causing germline mutation(s) in | Assessed | HGNC:393 | ENSG00000117020 | 611223 | 1q43-q44 | AKT serine/threonine kinase 3 | 22729224[PMID] |
| PIK3R2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8980 | ENSG00000105647 | 603157 | 19p13.11 | phosphoinositide-3-kinase regulatory subunit 2 | 22729224[PMID] |
| PIK3R2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:8980 | ENSG00000105647 | 603157 | 19p13.11 | phosphoinositide-3-kinase regulatory subunit 2 | 26520804[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 62 cases | Worldwide | Case(s) | Validated | 27854409[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27854409[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.
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HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000238 | Hydrocephalus | |
| HP:0000256 | Macrocephaly | |
| HP:0001355 | Megalencephaly | |
| HP:0002126 | Polymicrogyria | |
| HP:0001162 | Postaxial hand polydactyly | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0100542 | Abnormal localization of kidney | |
| HP:0005105 | Abnormal nasal morphology | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0001653 | Mitral regurgitation | |
| HP:0000160 | Narrow mouth | |
| HP:0001250 | Seizure | |
| HP:0000506 | Telecanthus | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83473
- This record as JSON: /data/d/83473.json