Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly

Preferred Label : Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly;

Symbol : MARCH;

CISMeF acronym : MARCH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hydranencephaly with renal aplasia-dysplasia;

Description : Bendon et al. (1987) described 2 male infant sibs with a syndrome of multiple congenital anomalies, namely, hydranencephaly with multinucleated neurons, hypoplastic kidneys, and syndactyly of the second and third toes. In both sibs the cranial cavity was filled with fluid, with a rudimentary brain weighing only 14 or 15 grams present at the base of the skull. (The mean normal weight of the brain at 35 weeks of gestation is 280 grams.) *FIELD* RF 1. Bendon, R. W.; Siddiqi, T.; de Courten-Myers, G.; Dignan, P.: Recurrent developmental anomalies: 1. syndrome of hydranencephaly with renal aplastic dysplasia; 2. polyvalvular developmental heart defect. Am. J. Med. Genet. Suppl. 3: 357-365, 1987. *FIELD* CS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the centrosomal protein, 55-kD gene (CEP55, 610000.0001);

Prefixed ID : #236500;

Details

Origin ID

236500;

UMLS CUI

C1856053;

Automatic exact mappings (from CISMeF team)
- Ability to initiate walking (observable entity) [SNOMED CT concept]
- Ambulation Technique [ICNP mean]
- Does not run up hill (finding) [SNOMED CT concept]
- Does walk (finding) [SNOMED CT concept]
- March [NCIt concept]
- Market (environment) [SNOMED CT concept]
- Marketing [NCIt concept]
- Stair [NCIt concept]
- Walking [ICNP subject]
- Walking [HPMULTI term]
- Walking (observable entity) [SNOMED CT concept]
- gait, nos [SNOMED Notion]
- walking [MeSH Descriptor]
- walking [ICF N2 Element]
Currated CISMeF NLP mapping
- Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome (disorder) [SNOMED CT concept]
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [ORDO Disease]
- hydranencephaly with renal Aplasia-Dysplasia [MeSH concept]
- hydranencephaly with renal Aplasia-Dysplasia [MeSH Supplementary Concept]
- multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly [DO Concept]
DO Cross reference
- multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly [DO Concept]
Genes related to phenotype
- Centrosomal protein, 55-kd [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Anteverted nares [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Bulbous nose [HPO term]
- Cerebellar hypoplasia [HPO term]
- Choanal stenosis [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cutaneous syndactyly [HPO term]
- Cystic hygroma [HPO term]
- Hydranencephaly [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Low-set ears [HPO term]
- Microretrognathia [HPO term]
- Narrow nasal ridge [HPO term]
- Narrow palpebral fissure [HPO term]
- Neonatal death [HPO term]
- Oligohydramnios [HPO term]
- Potter facies [HPO term]
- Pulmonary hypoplasia [HPO term]
- Redundant neck skin [HPO term]
- Renal cyst [HPO term]
- Renal dysplasia [HPO term]
- Renal hypoplasia [HPO term]
- Short neck [HPO term]
- Single transverse palmar crease [HPO term]
- Stillbirth [HPO term]
- Talipes equinovarus [HPO term]
- Ureteral agenesis [HPO term]
ORDO concept(s)
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome (disorder) [SNOMED CT concept]
- hydranencephaly with renal Aplasia-Dysplasia [MeSH Supplementary Concept]
- hydranencephaly with renal Aplasia-Dysplasia [MeSH concept]

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