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Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome(MARCH)

MedGen UID:
343465
Concept ID:
C1856053
Disease or Syndrome
Synonym: Hydranencephaly with renal aplasia-dysplasia
SNOMED CT: MARCH syndrome (1169358003); Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome (1169358003)
 
Gene (location): CEP55 (10q23.33)
 
Monarch Initiative: MONDO:0009359
OMIM®: 236500
Orphanet: ORPHA500135

Definition

MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017). [from OMIM]

Clinical features

From HPO
Renal hypoplasia
MedGen UID:
120571
Concept ID:
C0266295
Congenital Abnormality
Hypoplasia of the kidney.
Renal dysplasia
MedGen UID:
760690
Concept ID:
C3536714
Congenital Abnormality
The presence of developmental dysplasia of the kidney.
Renal cyst
MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
A fluid filled sac in the kidney.
Ureteral agenesis
MedGen UID:
868560
Concept ID:
C4022959
Finding
Failure of the ureter to undergo development.
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Cutaneous syndactyly
MedGen UID:
396250
Concept ID:
C1861921
Congenital Abnormality
A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.
2-3 toe syndactyly
MedGen UID:
1645640
Concept ID:
C4551570
Congenital Abnormality
Syndactyly with fusion of toes two and three.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Hydranencephaly
MedGen UID:
6937
Concept ID:
C0020225
Congenital Abnormality
A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.
Cerebellar hypoplasia
MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Hypoplasia of the brainstem
MedGen UID:
334226
Concept ID:
C1842688
Finding
Underdevelopment of the brainstem.
Multinucleated neuron
MedGen UID:
937793
Concept ID:
C4313826
Finding
Neurons that contain more than one nucleus.
Microretrognathia
MedGen UID:
326907
Concept ID:
C1839546
Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Arthrogryposis multiplex congenita
MedGen UID:
1830310
Concept ID:
C5779613
Disease or Syndrome
Multiple congenital contractures in different body areas.
Pulmonary hypoplasia
MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Cystic hygroma
MedGen UID:
60195
Concept ID:
C0206620
Neoplastic Process
A cystic lymphatic lesion of the neck.
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Potter facies
MedGen UID:
78614
Concept ID:
C0266619
Congenital Abnormality
A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Choanal stenosis
MedGen UID:
108427
Concept ID:
C0584837
Finding
Abnormal narrowing of the choana (the posterior nasal aperture).
Narrow nasal ridge
MedGen UID:
373404
Concept ID:
C1837761
Finding
Decreased width of the nasal ridge.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Redundant neck skin
MedGen UID:
374440
Concept ID:
C1840319
Finding
Excess skin around the neck, often lying in horizontal folds.
Narrow palpebral fissure
MedGen UID:
382506
Concept ID:
C2675021
Finding
Reduction in the vertical distance between the upper and lower eyelids.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

Professional guidelines

PubMed

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Recent clinical studies

Etiology

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Actas Dermosifiliogr 2017 Jun;108(5):400-406. Epub 2017 Mar 3 doi: 10.1016/j.ad.2016.12.005. PMID: 28262109
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Diagnosis

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Rose CD, Neven B, Wouters C
Best Pract Res Clin Rheumatol 2014 Apr;28(2):191-212. doi: 10.1016/j.berh.2014.03.006. PMID: 24974058
Lawton AW, Karesh JW
Surv Ophthalmol 1987 Jan-Feb;31(4):285-90. doi: 10.1016/0039-6257(87)90029-4. PMID: 3576444
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de Lavillandre JLB, Buron F, Ducroux E, Kanitakis J
Skinmed 2022;20(2):145-148. Epub 2022 Apr 30 PMID: 35532771
Kim H, Lim KY, Park JW, Kang J, Won JK, Lee K, Shim Y, Park CK, Kim SK, Choi SH, Kim TM, Yun H, Park SH
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Ortiz Salvador JM, Subiabre Ferrer D, Pérez Ferriols A
Actas Dermosifiliogr 2017 Jun;108(5):400-406. Epub 2017 Mar 3 doi: 10.1016/j.ad.2016.12.005. PMID: 28262109
Tsujioka T, Matsuoka A, Tohyama Y, Tohyama K
Curr Pharm Des 2012;18(22):3204-14. doi: 10.2174/1381612811209023204. PMID: 22571700
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Prognosis

Ahmed A, Naidu A
J Clin Pathol 2021 Aug;74(8):483-490. Epub 2021 Apr 15 doi: 10.1136/jclinpath-2020-206858. PMID: 33858937
Ortiz Salvador JM, Subiabre Ferrer D, Pérez Ferriols A
Actas Dermosifiliogr 2017 Jun;108(5):400-406. Epub 2017 Mar 3 doi: 10.1016/j.ad.2016.12.005. PMID: 28262109
Wong KT, Tan CT
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Stanescu V, Stanescu R, Maroteaux P
J Bone Joint Surg Am 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. PMID: 6376516

Clinical prediction guides

Siddiq MM, Chan AT, Miorin L, Yadaw AS, Beaumont KG, Kehrer T, Cupic A, White KM, Tolentino RE, Hu B, Stern AD, Tavassoly I, Hansen J, Sebra R, Martinez P, Prabha S, Dubois N, Schaniel C, Iyengar-Kapuganti R, Kukar N, Giustino G, Sud K, Nirenberg S, Kovatch P, Albrecht RA, Goldfarb J, Croft L, McLaughlin MA, Argulian E, Lerakis S, Narula J, García-Sastre A, Iyengar R
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Recent systematic reviews

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