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Enlarged cerebellum

MedGen UID:
479654
Concept ID:
C3278024
Finding
HPO: HP:0012081

Definition

An abnormally increased size of the cerebellum compared to other brain structures. [from HPO]

Conditions with this feature

Costello syndrome
MedGen UID:
108454
Concept ID:
C0587248
Disease or Syndrome
While the majority of individuals with Costello syndrome share characteristic findings affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a milder or attenuated phenotype to a severe phenotype with early lethal complications. Costello syndrome is typically characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.
Coffin-Siris syndrome 12
MedGen UID:
1782096
Concept ID:
C5444111
Disease or Syndrome
Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS (Barish et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
Microcephaly 29, primary, autosomal recessive
MedGen UID:
1823993
Concept ID:
C5774220
Disease or Syndrome
Autosomal recessive primary microcephaly-29 (MCPH29) is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities. Affected individuals also have poor overall growth with short stature, mild dysmorphic facial features, and seizures (Khan et al., 2020). For a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).

Professional guidelines

PubMed

Yao Y, Xu Y, Li X, Song T, Xu W, Duan Y, Liu Y, Zhang X, Tian DC
Mult Scler Relat Disord 2022 Oct;66:104026. Epub 2022 Jul 5 doi: 10.1016/j.msard.2022.104026. PMID: 35868153
Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E
Orphanet J Rare Dis 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4. PMID: 22236771Free PMC Article
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183

Recent clinical studies

Etiology

Izbudak I, Acer N, Poretti A, Gumus K, Zararsiz G
Turk Neurosurg 2015;25(6):948-53. doi: 10.5137/1019-5149.JTN.11567-14.0. PMID: 26617148
Jones W, Hesselink J, Courchesne E, Duncan T, Matsuda K, Bellugi U
Dev Med Child Neurol 2002 Oct;44(10):688-94. doi: 10.1017/s0012162201002766. PMID: 12418794

Diagnosis

Chen CP, Chang TY, Lin TW, Chern SR, Chen SW, Lai ST, Chuang TY, Wang W
Taiwan J Obstet Gynecol 2018 Feb;57(1):119-122. doi: 10.1016/j.tjog.2017.12.020. PMID: 29458880
Lahuis BE, Durston S, Nederveen H, Zeegers M, Palmen SJ, Van Engeland H
Psychol Med 2008 Sep;38(9):1361-7. Epub 2007 Sep 10 doi: 10.1017/S0033291707001481. PMID: 17825125
Jones W, Hesselink J, Courchesne E, Duncan T, Matsuda K, Bellugi U
Dev Med Child Neurol 2002 Oct;44(10):688-94. doi: 10.1017/s0012162201002766. PMID: 12418794
Gripp KW, Zimmerman RA, Wang ZJ, Rorke LB, Duhaime AC, Schut L, Molloy PT, Tucker SH, Zackai EH, Muenke M
AJNR Am J Neuroradiol 1998 Aug;19(7):1368-72. PMID: 9726484Free PMC Article

Clinical prediction guides

Jones W, Hesselink J, Courchesne E, Duncan T, Matsuda K, Bellugi U
Dev Med Child Neurol 2002 Oct;44(10):688-94. doi: 10.1017/s0012162201002766. PMID: 12418794
Leiner HC, Leiner AL, Dow RS
Behav Brain Res 1991 Aug 29;44(2):113-28. doi: 10.1016/s0166-4328(05)80016-6. PMID: 1751002

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