Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Synonyms: MARCH syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die <i>in utero</i> or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | MARCH syndrome |
| fr | Syndrome de neurones multinuclés-anhydramnios-dysplasie rénale-hypoplasie cérébelleuse-hydranencéphalie | |
| de | Mehrkernige Neuronale Zellen-Anhydramnion-renale Dysplasie-zerebelläre Hypoplasie-Hydranenzephalie-Syndrom | MARCH-Syndrom |
| es | Síndrome de neuronas multinucleadas-anhidramnios-displasia renal-hipoplasia cerebelosa-hidranencefalia | Síndrome MARCH |
| it | Sindrome neuroni multinucleati-anidramnios-displasia renale-ipoplasia cerebellare-idranencefalia | |
| nl | Multinucleaire neuronen - anhydramnion - renale dysplasie - cerebellaire hypoplasie - hydranencefalie-syndroom | MARCH-syndroom |
| pt | Síndrome de neurónios multinucleados-anidrâmnio-displasia renal-hipoplasia cerebelosa-hidranencefalia | |
| pl | Zespół wielojądrzastych neuronów, bezwodzia, dysplazji nerek, hipoplazji móżdżku i hydranencefalii | = en |
| cs | Syndrom zahrnující mnohojaderné neurony, anhydramnion, dysplázii ledvin, mozečkovou hypoplázii a hydranencefalii | = en |
| uk | Багатоядерні нейрони-ангідрамніоз-ниркова дисплазія-гіпоплазія мозочка-гідраненцефалічний синдром | Синдром MARCH |
| zh | 多核神经元-羊水过少-肾发育不良-小脑发育不全-积水性无脑畸形综合征 | = en |
| tr | Multikor nöronlar-anhidramnios-renal displazi-serebellar hipoplazi-hidranensefali sendromu | MARCH sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236500 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009359 | E | validated | |
| UMLS | C1856053 | 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 (7):
- ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CEP55 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1161 | ENSG00000138180 | 610000 | 10q23.33 | centrosomal protein 55 | 28264986[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 28264986[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28264986[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/500135
- This record as JSON: /data/d/500135.json