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Aqueductal stenosis

MedGen UID:
75614
Concept ID:
C0266476
Congenital Abnormality; Disease or Syndrome
Synonyms: Aqueductal Stenoses; Aqueductal Stenosis; Stenoses, Aqueductal; Stenosis, Aqueductal
SNOMED CT: Congenital stenosis of aqueduct of Sylvius (50429003)
 
HPO: HP:0002410
OMIM®: 236635

Definition

Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. [from HPO]

Conditions with this feature

Neurofibromatosis, type 1
MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.
X-linked hydrocephalus syndrome
MedGen UID:
75552
Concept ID:
C0265216
Disease or Syndrome
L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS). MASA (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs) syndrome including X-linked complicated hereditary spastic paraplegia type 1. X-linked complicated corpus callosum agenesis. Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spasticity; intellectual disability is severe. In less severely affected males, hydrocephalus may be subclinically present and documented only because of developmental delay; intellectual disability ranges from mild (IQ: 50-70) to moderate (IQ: 30-50). It is important to note that all phenotypes can be observed in affected individuals within the same family.
Nager syndrome
MedGen UID:
120519
Concept ID:
C0265245
Disease or Syndrome
Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).
Pettigrew syndrome
MedGen UID:
162924
Concept ID:
C0796254
Disease or Syndrome
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. (From Mondo:0010574)
Heterotaxy, visceral, 1, X-linked
MedGen UID:
336609
Concept ID:
C1844020
Disease or Syndrome
Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). Reviews Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral Heterotaxy See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; and HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11. Genetic Heterogeneity of Multiple Types of Congenital Heart Defects An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35. CHTD8 (619657) is caused by mutation in the SMAD2 gene (601366) on chromosome 18q21. CHTD9 (620294) is caused by mutation in the PLXND1 gene (604282) on chromosome 3q22.
VACTERL with hydrocephalus
MedGen UID:
376400
Concept ID:
C1848599
Disease or Syndrome
VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects; see 192350. Cases of familial VACTERL with hydrocephalus (H) have been reported with suggestion of autosomal recessive or X-linked inheritance (see 314390). Other patients thought to have VACTERL-H, including 2 unrelated infants reported by Porteous et al. (1992), had been found to have Fanconi anemia (see 227650). Porteous et al. (1992) suggested that chromosomal breakage studies should be performed in all cases of VACTERL/VACTERL-H to rule out Fanconi anemia. Alter et al. (2007) noted that a VATER phenotype had been reported in Fanconi anemia of complementation groups A (227650), C (227645), D1 (605724), E (600901), F (603467), and G (614082). X-linked VACTERL-H is also associated with mutations in the FANCB gene (300515).
Microcephaly-micromelia syndrome
MedGen UID:
381553
Concept ID:
C1855079
Disease or Syndrome
Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).
Acrofacial dysostosis Cincinnati type
MedGen UID:
903483
Concept ID:
C4225317
Disease or Syndrome
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).
Neurodevelopmental disorder with hypotonia and brain abnormalities
MedGen UID:
1794187
Concept ID:
C5561977
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) is characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood. Some affected individuals may have feeding difficulties, seizures, behavioral abnormalities, and nonspecific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum defects, cerebellar defects, and decreased white matter volume. There is significant phenotypic variability (summary by Duncan et al., 2021).
Biliary, renal, neurologic, and skeletal syndrome
MedGen UID:
1794200
Concept ID:
C5561990
Disease or Syndrome
Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).
Holoprosencephaly 14
MedGen UID:
1811868
Concept ID:
C5676994
Disease or Syndrome
Holoprosencephaly-14 (HPE14) is an autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum (Drissi et al., 2022). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Hydrocephalus, congenital, 5, susceptibility to
MedGen UID:
1840908
Concept ID:
C5830272
Finding
Congenital hydrocephalus-5 (HYC5) is an autosomal dominant condition characterized by hydrocephalus associated with aqueductal stenosis apparent from birth. Some patients may have neurodevelopmental delay, seizures, or structural brain abnormalities (Furey et al., 2018). For a discussion of genetic heterogeneity of congenital hydrocephalus, see 233600.
Neurooculorenal syndrome
MedGen UID:
1841013
Concept ID:
C5830377
Disease or Syndrome
Neurooculorenal syndrome (NORS) is an autosomal recessive developmental disorder with highly variable clinical manifestations involving several organ systems. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life, whereas others present in infancy with a neurodevelopmental disorder characterized by global developmental delay and dysmorphic facial features that may be associated with congenital anomalies of the kidney and urinary tract (CAKUT). Additional more variable features may include ocular anomalies, most commonly strabismus, congenital heart defects, and pituitary hormone deficiency. Brain imaging usually shows structural midline defects, including dysgenesis of the corpus callosum and hindbrain. There is variation in the severity, manifestations, and expressivity of the phenotype, even within families (Rasmussen et al., 2018; Munch et al., 2022).

Professional guidelines

PubMed

Pindrik J, Schulz L, Drapeau A
Semin Pediatr Neurol 2022 Jul;42:100969. Epub 2022 Apr 8 doi: 10.1016/j.spen.2022.100969. PMID: 35868728
Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2021 Dec;58(6):864-874. doi: 10.1002/uog.23660. PMID: 33942916
Emery SP, Narayanan S, Greene S
Prenat Diagn 2020 Jan;40(1):58-65. Epub 2019 Jul 15 doi: 10.1002/pd.5527. PMID: 31306500

Recent clinical studies

Etiology

Nix JS, Blakeley J, Rodriguez FJ
Acta Neuropathol 2020 Apr;139(4):625-641. Epub 2019 Apr 8 doi: 10.1007/s00401-019-02002-2. PMID: 30963251Free PMC Article
Anderson JL, Gutmann DH
Handb Clin Neurol 2015;132:75-86. doi: 10.1016/B978-0-444-62702-5.00004-4. PMID: 26564071
Tully HM, Dobyns WB
Eur J Med Genet 2014 Aug;57(8):359-68. Epub 2014 Jun 13 doi: 10.1016/j.ejmg.2014.06.002. PMID: 24932902Free PMC Article
Erşahin Y
Childs Nerv Syst 2007 Feb;23(2):143-50. Epub 2006 Oct 13 doi: 10.1007/s00381-006-0227-z. PMID: 17053938
Chahlavi A, El-Babaa SK, Luciano MG
Neurosurg Clin N Am 2001 Oct;12(4):753-60, ix. PMID: 11524296

Diagnosis

Youn J, Todisco M, Zappia M, Pacchetti C, Fasano A
J Neurol Sci 2022 Feb 15;433:120019. Epub 2021 Oct 1 doi: 10.1016/j.jns.2021.120019. PMID: 34674853
Emery SP, Narayanan S, Greene S
Prenat Diagn 2020 Jan;40(1):58-65. Epub 2019 Jul 15 doi: 10.1002/pd.5527. PMID: 31306500
Nix JS, Blakeley J, Rodriguez FJ
Acta Neuropathol 2020 Apr;139(4):625-641. Epub 2019 Apr 8 doi: 10.1007/s00401-019-02002-2. PMID: 30963251Free PMC Article
Erşahin Y
Childs Nerv Syst 2007 Feb;23(2):143-50. Epub 2006 Oct 13 doi: 10.1007/s00381-006-0227-z. PMID: 17053938
Chahlavi A, El-Babaa SK, Luciano MG
Neurosurg Clin N Am 2001 Oct;12(4):753-60, ix. PMID: 11524296

Therapy

Caceres A, Caceres-Alan A, Caceres-Alan T
Childs Nerv Syst 2024 Feb;40(2):295-301. Epub 2023 Mar 21 doi: 10.1007/s00381-023-05915-2. PMID: 36943435
Pindrik J, Schulz L, Drapeau A
Semin Pediatr Neurol 2022 Jul;42:100969. Epub 2022 Apr 8 doi: 10.1016/j.spen.2022.100969. PMID: 35868728
Bouras T, Sgouros S
J Neurosurg Pediatr 2011 Jun;7(6):643-9. doi: 10.3171/2011.4.PEDS10503. PMID: 21631203
Erşahin Y
Childs Nerv Syst 2007 Feb;23(2):143-50. Epub 2006 Oct 13 doi: 10.1007/s00381-006-0227-z. PMID: 17053938
Mitra DK, Srinivas M
Indian J Pediatr 1997 Nov-Dec;64(6 Suppl):15-21. PMID: 11129876

Prognosis

Rodis I, Mahr CV, Fehrenbach MK, Meixensberger J, Merkenschlager A, Bernhard MK, Schob S, Thome U, Wachowiak R, Hirsch FW, Nestler U, Preuss M
Childs Nerv Syst 2016 Apr;32(4):617-27. Epub 2016 Feb 27 doi: 10.1007/s00381-016-3029-y. PMID: 26922081
Cinalli G, Spennato P, Nastro A, Aliberti F, Trischitta V, Ruggiero C, Mirone G, Cianciulli E
Childs Nerv Syst 2011 Oct;27(10):1621-42. Epub 2011 Sep 17 doi: 10.1007/s00381-011-1546-2. PMID: 21928028
Chaddad Neto F, Lopes A, Alberto Filho M, Catanoce A, Joaquim AF, Oliveira Ed
Arq Neuropsiquiatr 2007 Dec;65(4A):996-9. doi: 10.1590/s0004-282x2007000600015. PMID: 18094862
Davis GH
Clin Perinatol 2003 Sep;30(3):531-9. doi: 10.1016/s0095-5108(03)00053-8. PMID: 14533894
Chahlavi A, El-Babaa SK, Luciano MG
Neurosurg Clin N Am 2001 Oct;12(4):753-60, ix. PMID: 11524296

Clinical prediction guides

Youn J, Todisco M, Zappia M, Pacchetti C, Fasano A
J Neurol Sci 2022 Feb 15;433:120019. Epub 2021 Oct 1 doi: 10.1016/j.jns.2021.120019. PMID: 34674853
Baticulon RE, Dewan MC
Neurol India 2021 Nov-Dec;69(12 Suppl 2):S514-S519. doi: 10.4103/0028-3886.332270. PMID: 35103010
Kaur LP, Munyiri NJ, Dismus WV
Pan Afr Med J 2017;26:106. Epub 2017 Feb 28 doi: 10.11604/pamj.2017.26.106.11050. PMID: 28533829Free PMC Article
Rossi A, Piatelli G, Gandolfo C, Pavanello M, Hoffmann C, Van Goethem JW, Cama A, Tortori-Donati P
Neurosurgery 2006 Mar;58(3):509-15; discussion 509-15. doi: 10.1227/01.NEU.0000197122.92954.82. PMID: 16528191
Stein SC, Schut L
Childs Brain 1979;5(4):413-9. doi: 10.1159/000119836. PMID: 456113

Recent systematic reviews

Guida L, Grenier-Chartrand F, Benichi S, James S, Paternoster G, Bourgeois M, Dangouloff-Ros V, Messina A, Boddaert N, Puget S, Beccaria K, Blauwblomme T
J Neurosurg Pediatr 2023 Dec 1;32(6):638-648. Epub 2023 Sep 29 doi: 10.3171/2023.9.PEDS23208. PMID: 37877943
Albalkhi I, Garatli S, Helal B, Saleh T, AlRamadan AH, Warf BC
Neurosurg Rev 2023 Jul 19;46(1):180. doi: 10.1007/s10143-023-02091-4. PMID: 37468790
Giussani C, Guida L, Trezza A, Sganzerla EP
World Neurosurg 2017 Jul;103:257-264. Epub 2017 Apr 8 doi: 10.1016/j.wneu.2017.03.143. PMID: 28400227
Bouras T, Sgouros S
Acta Neurochir Suppl 2012;113:149-53. doi: 10.1007/978-3-7091-0923-6_30. PMID: 22116442
Bouras T, Sgouros S
J Neurosurg Pediatr 2011 Jun;7(6):643-9. doi: 10.3171/2011.4.PEDS10503. PMID: 21631203

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