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Retrocerebellar cyst

MedGen UID:
335172
Concept ID:
C1845370
Finding
Synonym: Retrocerebellar cyst (disease)
 
HPO: HP:0006951
Monarch Initiative: MONDO:0017106

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRetrocerebellar cyst

Conditions with this feature

X-linked intellectual disability-cerebellar hypoplasia syndrome
MedGen UID:
336920
Concept ID:
C1845366
Disease or Syndrome
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
Acromelic frontonasal dysostosis
MedGen UID:
350933
Concept ID:
C1863616
Disease or Syndrome
Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.
Acroosteolysis-keloid-like lesions-premature aging syndrome
MedGen UID:
400936
Concept ID:
C1866182
Disease or Syndrome
Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015).
Adams-Oliver syndrome 2
MedGen UID:
481812
Concept ID:
C3280182
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.
Autosomal recessive spinocerebellar ataxia 13
MedGen UID:
766730
Concept ID:
C3553816
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-13 (SCAR13) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development beginning in infancy. Affected individuals show mildly to profoundly impaired intellectual development with poor or absent speech as well as gait and stance ataxia and hyperreflexia. Most individuals also have eye movement abnormalities. Brain MRI shows cerebellar atrophy and ventriculomegaly (Guergueltcheva et al., 2012).
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
MedGen UID:
862856
Concept ID:
C4014419
Disease or Syndrome
The main features of Xia-Gibbs syndrome (XGS), present in a majority of affected individuals, include delayed motor milestones, speech delay with severely limited or absent speech, moderate-to-severe cognitive impairment, hypotonia, structural brain anomalies, and nonspecific dysmorphic features. Other features may include sleep apnea, movement disorders (ataxia, tremors, and bradykinesias) that often become apparent in childhood or adolescence, short stature, seizures, eye anomalies, behavioral concerns, autism spectrum disorder, scoliosis, and laryngomalacia.
Lissencephaly 8
MedGen UID:
934613
Concept ID:
C4310646
Disease or Syndrome
Lissencephaly-8 (LIS8) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (Jerber et al., 2016). For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (607432).

Professional guidelines

PubMed

Dhandapani S, Sahoo SK
World Neurosurg 2019 Dec;132:e654-e664. Epub 2019 Aug 20 doi: 10.1016/j.wneu.2019.08.052. PMID: 31442641
Leibovitz Z, Guibaud L, Garel C, Massoud M, Karl K, Malinger G, Haratz KK, Gindes L, Tamarkin M, Ben-Sira L, Lev D, Shalev J, Brasseur-Daudruy M, Contreras Gutierrez de Piñeres CA, Lerman-Sagie T
Eur J Paediatr Neurol 2018 Nov;22(6):900-909. Epub 2018 Sep 1 doi: 10.1016/j.ejpn.2018.08.006. PMID: 30209013

Recent clinical studies

Etiology

Gilemkhanova IM, Safin S, Derevyanko K, Gilemkhanov A, Buzaev I
Br J Neurosurg 2019 Dec;33(6):671-672. Epub 2019 Sep 26 doi: 10.1080/02688697.2019.1668540. PMID: 31556758
Leibovitz Z, Guibaud L, Garel C, Massoud M, Karl K, Malinger G, Haratz KK, Gindes L, Tamarkin M, Ben-Sira L, Lev D, Shalev J, Brasseur-Daudruy M, Contreras Gutierrez de Piñeres CA, Lerman-Sagie T
Eur J Paediatr Neurol 2018 Nov;22(6):900-909. Epub 2018 Sep 1 doi: 10.1016/j.ejpn.2018.08.006. PMID: 30209013
Blondiaux E, Sileo C, Nahama-Allouche C, Moutard ML, Gelot A, Jouannic JM, Ducou le Pointe H, Garel C
Ultrasound Obstet Gynecol 2013 Aug;42(2):149-55. doi: 10.1002/uog.12340. PMID: 23151899
Vijayakumar K, Gunny R, Grunewald S, Carr L, Chong KW, DeVile C, Robinson R, McSweeney N, Prabhakar P
Pediatr Neurol 2011 Oct;45(4):246-52. doi: 10.1016/j.pediatrneurol.2011.06.006. PMID: 21907887
Turner MS, Nguyen HS, Payner TD, Cohen-Gadol AA
J Neurosurg Pediatr 2011 Jul;8(1):15-21. doi: 10.3171/2011.4.PEDS10541. PMID: 21721883

Diagnosis

Sepulveda W, Sepulveda F
J Matern Fetal Neonatal Med 2022 Jul;35(14):2751-2758. Epub 2020 Jul 28 doi: 10.1080/14767058.2020.1799349. PMID: 32723018
Leibovitz Z, Guibaud L, Garel C, Massoud M, Karl K, Malinger G, Haratz KK, Gindes L, Tamarkin M, Ben-Sira L, Lev D, Shalev J, Brasseur-Daudruy M, Contreras Gutierrez de Piñeres CA, Lerman-Sagie T
Eur J Paediatr Neurol 2018 Nov;22(6):900-909. Epub 2018 Sep 1 doi: 10.1016/j.ejpn.2018.08.006. PMID: 30209013
Vijayakumar K, Gunny R, Grunewald S, Carr L, Chong KW, DeVile C, Robinson R, McSweeney N, Prabhakar P
Pediatr Neurol 2011 Oct;45(4):246-52. doi: 10.1016/j.pediatrneurol.2011.06.006. PMID: 21907887
Nelson MD Jr, Maher K, Gilles FH
Pediatr Radiol 2004 Sep;34(9):720-32. Epub 2004 Jul 30 doi: 10.1007/s00247-004-1253-1. PMID: 15316692
Strand RD, Barnes PD, Poussaint TY, Estroff JA, Burrows PE
Pediatr Radiol 1993;23(4):258-60. doi: 10.1007/BF02010910. PMID: 8414749

Therapy

Ramdasi RV, Rangarajan V, Mahore A
BMJ Case Rep 2015 Apr 28;2015 doi: 10.1136/bcr-2014-206938. PMID: 25920734Free PMC Article
Ulrich NH, Maier M, Bernays RL, Krayenbuhl N, Kollias S
Turk Neurosurg 2013;23(3):410-4. doi: 10.5137/1019-5149.JTN.5604-11.0. PMID: 23756987

Prognosis

Turner MS, Nguyen HS, Payner TD, Cohen-Gadol AA
J Neurosurg Pediatr 2011 Jul;8(1):15-21. doi: 10.3171/2011.4.PEDS10541. PMID: 21721883
Pabuşçu Y, Bulakbasi N, Kocaoğlu M, Uçöz T
Comput Med Imaging Graph 2002 Nov-Dec;26(6):453-8. doi: 10.1016/s0895-6111(02)00026-5. PMID: 12453509

Clinical prediction guides

Sepulveda W, Sepulveda F
J Matern Fetal Neonatal Med 2022 Jul;35(14):2751-2758. Epub 2020 Jul 28 doi: 10.1080/14767058.2020.1799349. PMID: 32723018
Dhandapani S, Sahoo SK
World Neurosurg 2019 Dec;132:e654-e664. Epub 2019 Aug 20 doi: 10.1016/j.wneu.2019.08.052. PMID: 31442641
Blondiaux E, Sileo C, Nahama-Allouche C, Moutard ML, Gelot A, Jouannic JM, Ducou le Pointe H, Garel C
Ultrasound Obstet Gynecol 2013 Aug;42(2):149-55. doi: 10.1002/uog.12340. PMID: 23151899
Vijayakumar K, Gunny R, Grunewald S, Carr L, Chong KW, DeVile C, Robinson R, McSweeney N, Prabhakar P
Pediatr Neurol 2011 Oct;45(4):246-52. doi: 10.1016/j.pediatrneurol.2011.06.006. PMID: 21907887
Temtamy SA, Aglan MS, Ashour AM, Zaki MS
Clin Dysmorphol 2007 Jul;16(3):141-149. doi: 10.1097/MCD.0b013e3280f9df22. PMID: 17551326

Recent systematic reviews

Dhandapani S, Sahoo SK
World Neurosurg 2019 Dec;132:e654-e664. Epub 2019 Aug 20 doi: 10.1016/j.wneu.2019.08.052. PMID: 31442641

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