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Hydranencephaly

MedGen UID:
6937
Concept ID:
C0020225
Congenital Abnormality
Synonyms: Absence of Cerebral Hemispheres, Congenital; Cerebral Hemispheres, Absence, Congenital; Congenital Absence of Cerebral Hemispheres; Hydranencephalies
SNOMED CT: Hydranencephaly (30023002); Congenital absence of cerebral hemispheres (30023002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
HPO: HP:0002324
Monarch Initiative: MONDO:0016344
Orphanet: ORPHA2177

Definition

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. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hydranencephaly
Follow this link to review classifications for Hydranencephaly in Orphanet.

Conditions with this feature

Microcephaly-cardiac defect-lung malsegmentation syndrome
MedGen UID:
371329
Concept ID:
C1832436
Disease or Syndrome
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.
Pelviscapular dysplasia
MedGen UID:
342400
Concept ID:
C1850040
Disease or Syndrome
Syndrome with characteristics of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. The facial dysmorphism has manifestations of frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline. Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synostosis, dislocation of the femoral heads, and moderate brachydactyly. Mutations in the TBX15 gene have been identified as potentially causative. Pelviscapular dysplasia is phenotypically similar to pelvis-shoulder dysplasia.
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
MedGen UID:
343465
Concept ID:
C1856053
Disease or Syndrome
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).
Fowler syndrome
MedGen UID:
384026
Concept ID:
C1856972
Disease or Syndrome
The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).
NDE1-related microhydranencephaly
MedGen UID:
341899
Concept ID:
C1857977
Disease or Syndrome
Microhydranencephaly (MHAC) is a severe neurodevelopmental defect characterized by extreme microcephaly, profound motor and mental retardation, spasticity, and incomplete cerebral formation. Radiologic studies show gross dilation of the ventricles resulting from the absence of cerebral hemispheres or severe delay in their development, as well as hypoplasia of the corpus callosum, cerebellum, and brainstem (summary by Guven et al., 2012).
Neu-Laxova syndrome 1
MedGen UID:
1633287
Concept ID:
C4551478
Disease or Syndrome
Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.
Hydrocephalus, congenital, 3, with brain anomalies
MedGen UID:
1648319
Concept ID:
C4747885
Disease or Syndrome
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
MedGen UID:
1841145
Concept ID:
C5830509
Disease or Syndrome
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) is an autosomal recessive disorder characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. Some affected individuals have symptoms incompatible with life and die in utero. Those that survive show profound global developmental delay with almost no motor or cognitive skills, hypotonia, spasticity, and seizures. Other features may include facial dysmorphism, retinal vascular abnormalities, and poor overall growth. The pathogenesis of the disease likely results from dysfunction of vascular endothelial cells in the brain (Lecca et al., 2023).

Professional guidelines

PubMed

Cater SW, Boyd BK, Ghate SV
Radiographics 2020 Sep-Oct;40(5):1458-1472. Epub 2020 Jul 24 doi: 10.1148/rg.2020200034. PMID: 32706613
Akutsu N, Azumi M, Koyama J, Kawamura A, Taniguchi M, Kohmura E
Childs Nerv Syst 2020 Jun;36(6):1239-1243. Epub 2020 Jan 2 doi: 10.1007/s00381-019-04479-4. PMID: 31897631
Mori K, Shimada J, Kurisaka M, Sato K, Watanabe K
Brain Dev 1995 Sep-Oct;17(5):338-48. doi: 10.1016/0387-7604(95)00070-r. PMID: 8579221

Recent clinical studies

Etiology

Omar AT 2nd, Manalo MKA, Zuniega RRA, Reyes JCB, Brillante EMB, Khu KJO
World Neurosurg 2020 Dec;144:e589-e596. Epub 2020 Sep 8 doi: 10.1016/j.wneu.2020.09.029. PMID: 32916366
Akutsu N, Azumi M, Koyama J, Kawamura A, Taniguchi M, Kohmura E
Childs Nerv Syst 2020 Jun;36(6):1239-1243. Epub 2020 Jan 2 doi: 10.1007/s00381-019-04479-4. PMID: 31897631
Pedrosa HAR, Lemos SP, Vieira C, Amaral LC, Malheiros JA, Oliveira MM, Gomez RS, Giannetti AV
Childs Nerv Syst 2017 Sep;33(9):1509-1516. Epub 2017 Jun 8 doi: 10.1007/s00381-017-3470-6. PMID: 28597309
Pavone P, Nigro F, Falsaperla R, Greco F, Ruggieri M, Rizzo R, Praticò AD, Pavone L
Ital J Pediatr 2013 Jan 16;39:3. doi: 10.1186/1824-7288-39-3. PMID: 23324549Free PMC Article
Govaert P
Semin Fetal Neonatal Med 2009 Oct;14(5):250-66. Epub 2009 Aug 6 doi: 10.1016/j.siny.2009.07.008. PMID: 19664975

Diagnosis

Pavone P, Praticò AD, Vitaliti G, Ruggieri M, Rizzo R, Parano E, Pavone L, Pero G, Falsaperla R
Ital J Pediatr 2014 Oct 18;40:79. doi: 10.1186/s13052-014-0079-1. PMID: 25326191Free PMC Article
Pavone P, Nigro F, Falsaperla R, Greco F, Ruggieri M, Rizzo R, Praticò AD, Pavone L
Ital J Pediatr 2013 Jan 16;39:3. doi: 10.1186/1824-7288-39-3. PMID: 23324549Free PMC Article
Pant S, Kaur G, De JK
Kathmandu Univ Med J (KUMJ) 2010 Jan-Mar;8(29):83-6. doi: 10.3126/kumj.v8i1.3227. PMID: 21209513
Winter TC, Kennedy AM, Byrne J, Woodward PJ
J Ultrasound Med 2010 Mar;29(3):427-44. doi: 10.7863/jum.2010.29.3.427. PMID: 20194938
Govaert P
Semin Fetal Neonatal Med 2009 Oct;14(5):250-66. Epub 2009 Aug 6 doi: 10.1016/j.siny.2009.07.008. PMID: 19664975

Therapy

Ray C, Mobley J, Thompson M, Nagy L
Turk Neurosurg 2015;25(5):788-92. doi: 10.5137/1019-5149.JTN.10453-14.1. PMID: 26442548
Shitsama S, Wittayanakorn N, Okechi H, Albright AL
J Neurosurg Pediatr 2014 Jul;14(1):55-7. Epub 2014 Apr 25 doi: 10.3171/2014.3.PEDS13488. PMID: 24766307
Li YM, Blaskiewicz DJ, Hall WA
World Neurosurg 2013 Dec;80(6):e387-9. Epub 2013 Jan 12 doi: 10.1016/j.wneu.2013.01.046. PMID: 23321380
Malheiros JA, Trivelato FP, Oliveira MM, Gusmão S, Cochrane DD, Steinbok P
Neurosurgery 2010 Mar;66(3):459-64; discussion 464. doi: 10.1227/01.NEU.0000365264.99133.CA. PMID: 20173541
Hageman G, Willemse J, van Ketel BA, Barth PG, Lindhout D
Neuropediatrics 1987 Feb;18(1):45-50. doi: 10.1055/s-2008-1052435. PMID: 3561707

Prognosis

Huff N, Naik S
Pediatr Neurol 2017 Feb;67:107-108. Epub 2016 Sep 9 doi: 10.1016/j.pediatrneurol.2016.08.002. PMID: 27876178
Hino-Fukuyo N, Togashi N, Takahashi R, Saito J, Inui T, Endo W, Sato R, Okubo Y, Saitsu H, Haginoya K
Pediatr Neurol 2016 Jan;54:39-42.e1. Epub 2015 Aug 28 doi: 10.1016/j.pediatrneurol.2015.08.016. PMID: 26545857
Pavone P, Praticò AD, Vitaliti G, Ruggieri M, Rizzo R, Parano E, Pavone L, Pero G, Falsaperla R
Ital J Pediatr 2014 Oct 18;40:79. doi: 10.1186/s13052-014-0079-1. PMID: 25326191Free PMC Article
McAbee GN, Chan A, Erde EL
Pediatr Neurol 2000 Jul;23(1):80-4. doi: 10.1016/s0887-8994(00)00154-5. PMID: 10963978
Cooney TP, Thurlbeck WM
Am Rev Respir Dis 1985 Sep;132(3):596-601. doi: 10.1164/arrd.1985.132.3.596. PMID: 4037531

Clinical prediction guides

De Luca C, Crow YJ, Rodero M, Rice GI, Ahmed M, Lammens M, De Cock P, Van Esch H, Lagae L, Rochtus A
Clin Genet 2020 Nov;98(5):423-432. Epub 2020 May 11 doi: 10.1111/cge.13761. PMID: 32333401
Akutsu N, Azumi M, Koyama J, Kawamura A, Taniguchi M, Kohmura E
Childs Nerv Syst 2020 Jun;36(6):1239-1243. Epub 2020 Jan 2 doi: 10.1007/s00381-019-04479-4. PMID: 31897631
Radford K, Taylor RC, Hall JG, Gick B
Birth Defects Res 2019 Jan 15;111(2):41-52. Epub 2018 Dec 10 doi: 10.1002/bdr2.1424. PMID: 30537250
Ogiwara H, Uematsu K, Morota N
J Neurosurg Pediatr 2014 Sep;14(3):230-3. Epub 2014 Jul 4 doi: 10.3171/2014.6.PEDS1438. PMID: 24995821
Cooney TP, Thurlbeck WM
Am Rev Respir Dis 1985 Sep;132(3):596-601. doi: 10.1164/arrd.1985.132.3.596. PMID: 4037531

Recent systematic reviews

De Luca C, Crow YJ, Rodero M, Rice GI, Ahmed M, Lammens M, De Cock P, Van Esch H, Lagae L, Rochtus A
Clin Genet 2020 Nov;98(5):423-432. Epub 2020 May 11 doi: 10.1111/cge.13761. PMID: 32333401
Omar AT 2nd, Khu KJO
Childs Nerv Syst 2019 Jul;35(7):1165-1171. Epub 2019 Mar 30 doi: 10.1007/s00381-019-04137-9. PMID: 30929071
Huang HY, Lin SJ, Zhao WG, Wu ZB
Metab Brain Dis 2018 Jun;33(3):969-976. Epub 2018 Mar 15 doi: 10.1007/s11011-018-0217-3. PMID: 29546691

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