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Cerebellar hemisphere hypoplasia

MedGen UID:
867764
Concept ID:
C4022154
Anatomical Abnormality
HPO: HP:0100307

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Cerebellar hemisphere hypoplasia

Conditions with this feature

Pontocerebellar hypoplasia type 2C
MedGen UID:
382856
Concept ID:
C2676465
Disease or Syndrome
TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family.
Microcephalic primordial dwarfism due to ZNF335 deficiency
MedGen UID:
767413
Concept ID:
C3554499
Disease or Syndrome
Primary microcephaly-10 (MCPH10) is an autosomal recessive disorder characterized by extremely small head size (-9 SD) at birth and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation (summary by Yang et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).
Cobblestone lissencephaly without muscular or ocular involvement
MedGen UID:
767571
Concept ID:
C3554657
Disease or Syndrome
Lissencephaly-5 (LIS5) is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development (Radmanesh et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
MedGen UID:
815372
Concept ID:
C3809042
Disease or Syndrome
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as dystroglycanopathies (summary by Buysse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).
Lissencephaly 9 with complex brainstem malformation
MedGen UID:
1681109
Concept ID:
C5193029
Disease or Syndrome
Lissencephaly-9 with complex brainstem malformation (LIS9) is an autosomal dominant neurologic disorder characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements associated with abnormal brain imaging that typically shows pachygyria, lissencephaly, and malformation of the brainstem consistent with a neuronal migration defect (summary by Dobyns et al., 2018). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Pontocerebellar hypoplasia, IIA 17
MedGen UID:
1809583
Concept ID:
C5676999
Disease or Syndrome
Pontocerebellar hypoplasia type 17 (PCH17) is a severe autosomal recessive developmental disorder characterized by neonatal hypotonia, severe feeding difficulties, and respiratory insufficiency. Brain imaging shows cerebellar and brainstem hypoplasia. Most affected individuals die in infancy. Those who survive show variable developmental delay. Other features of the disorder include distal hypertonia, poor overall growth, visual defects, autonomic problems, dysmorphic features, and seizures (Coolen et al., 2022). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).

Professional guidelines

PubMed

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
Poretti A, Boltshauser E, Doherty D
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):211-26. Epub 2014 May 16 doi: 10.1002/ajmg.c.31398. PMID: 24839100
Malinger G, Lev D, Lerman-Sagie T
Prenat Diagn 2009 Apr;29(4):372-80. doi: 10.1002/pd.2196. PMID: 19194867

Recent clinical studies

Etiology

Zakaria RBM, Malta M, Pelletier F, Addour-Boudrahem N, Pinchefsky E, Martin CS, Srour M
Cerebellum 2024 Apr;23(2):418-430. Epub 2023 Mar 27 doi: 10.1007/s12311-023-01544-2. PMID: 36971923
Tilea B, Delezoide AL, Khung-Savatovski S, Guimiot F, Vuillard E, Oury JF, Garel C
Ultrasound Obstet Gynecol 2007 Jun;29(6):651-9. doi: 10.1002/uog.4012. PMID: 17476704

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
Tilea B, Delezoide AL, Khung-Savatovski S, Guimiot F, Vuillard E, Oury JF, Garel C
Ultrasound Obstet Gynecol 2007 Jun;29(6):651-9. doi: 10.1002/uog.4012. PMID: 17476704
Judd CD, Chapman PR, Koch B, Shea CJ
AJNR Am J Neuroradiol 2007 Jan;28(1):25-9. PMID: 17213418Free PMC Article
Martinelli P, Maruotti GM, Agangi A, Mazzarelli LL, Bifulco G, Paladini D
Ultrasound Obstet Gynecol 2004 Aug;24(2):199-201. doi: 10.1002/uog.1118. PMID: 15287060
Ramaekers VT, Heimann G, Reul J, Thron A, Jaeken J
Brain 1997 Oct;120 ( Pt 10):1739-51. doi: 10.1093/brain/120.10.1739. PMID: 9365367

Therapy

Judd CD, Chapman PR, Koch B, Shea CJ
AJNR Am J Neuroradiol 2007 Jan;28(1):25-9. PMID: 17213418Free PMC Article

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
Tilea B, Delezoide AL, Khung-Savatovski S, Guimiot F, Vuillard E, Oury JF, Garel C
Ultrasound Obstet Gynecol 2007 Jun;29(6):651-9. doi: 10.1002/uog.4012. PMID: 17476704
Judd CD, Chapman PR, Koch B, Shea CJ
AJNR Am J Neuroradiol 2007 Jan;28(1):25-9. PMID: 17213418Free PMC Article

Recent systematic reviews

Zakaria RBM, Malta M, Pelletier F, Addour-Boudrahem N, Pinchefsky E, Martin CS, Srour M
Cerebellum 2024 Apr;23(2):418-430. Epub 2023 Mar 27 doi: 10.1007/s12311-023-01544-2. PMID: 36971923

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