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Abnormal morphology of the limbic system

MedGen UID:
400282
Concept ID:
C1863392
Finding
Synonym: Limbic malformations
 
HPO: HP:0007343

Definition

Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. [from HPO]

Conditions with this feature

Acrocephalosyndactyly type I
MedGen UID:
7858
Concept ID:
C0001193
Congenital Abnormality
Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.

Professional guidelines

PubMed

Joyce EM
CNS Neurosci Ther 2018 Jul;24(7):598-603. Epub 2018 May 15 doi: 10.1111/cns.12973. PMID: 29766653Free PMC Article
Duman CH, Duman RS
Neurosci Lett 2015 Aug 5;601:20-9. Epub 2015 Jan 9 doi: 10.1016/j.neulet.2015.01.022. PMID: 25582786Free PMC Article
Marsh CA, Grimstad FW
Obstet Gynecol Surv 2014 Oct;69(10):603-12. doi: 10.1097/OGX.0000000000000111. PMID: 25336070

Recent clinical studies

Etiology

Takahashi T, Wood SJ, Yung AR, Nelson B, Lin A, Yuen HP, Phillips LJ, Suzuki M, McGorry PD, Velakoulis D, Pantelis C
Schizophr Res 2022 Jun;244:1-7. Epub 2022 Apr 26 doi: 10.1016/j.schres.2022.04.005. PMID: 35487129
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article
Settle M
Neonatal Netw 2000 Sep;19(6):9-14. doi: 10.1891/0730-0832.19.6.9. PMID: 11949123
Shaw CM, Alvord EC Jr
Neuroimaging Clin N Am 1997 Feb;7(1):101-42. PMID: 9100234
Mansfield MJ, Emans SJ
J Reprod Med 1984 Jun;29(6):399-410. PMID: 6379175

Diagnosis

Chapman PR, Singhal A, Gaddamanugu S, Prattipati V
Radiol Clin North Am 2020 Nov;58(6):1115-1133. Epub 2020 Sep 17 doi: 10.1016/j.rcl.2020.07.009. PMID: 33040852
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article
Ferran Kd, Paiva IA, Gilban DL, Resende M, Souza MA, Beserra IC, Guimarães MM
Arq Neuropsiquiatr 2010 Jun;68(3):400-5. doi: 10.1590/s0004-282x2010000300014. PMID: 20602044
Maghnie M
Horm Res 2003;59 Suppl 1:42-54. doi: 10.1159/000067844. PMID: 12566720
Settle M
Neonatal Netw 2000 Sep;19(6):9-14. doi: 10.1891/0730-0832.19.6.9. PMID: 11949123

Therapy

Pinto B, Morelli G, Rastogi M, Savardi A, Fumagalli A, Petretto A, Bartolucci M, Varea E, Catelani T, Contestabile A, Perlini LE, Cancedda L
Neuron 2020 Dec 9;108(5):887-904.e12. Epub 2020 Oct 6 doi: 10.1016/j.neuron.2020.09.010. PMID: 33027640Free PMC Article
Esposito D, Trimpou P, Giugliano D, Dehlin M, Ragnarsson O
Pituitary 2017 Oct;20(5):594-601. doi: 10.1007/s11102-017-0811-0. PMID: 28540625Free PMC Article
Otte C, Gold SM, Penninx BW, Pariante CM, Etkin A, Fava M, Mohr DC, Schatzberg AF
Nat Rev Dis Primers 2016 Sep 15;2:16065. doi: 10.1038/nrdp.2016.65. PMID: 27629598
Peñagarikano O, Lázaro MT, Lu XH, Gordon A, Dong H, Lam HA, Peles E, Maidment NT, Murphy NP, Yang XW, Golshani P, Geschwind DH
Sci Transl Med 2015 Jan 21;7(271):271ra8. doi: 10.1126/scitranslmed.3010257. PMID: 25609168Free PMC Article
Shaw CM, Alvord EC Jr
Neuroimaging Clin N Am 1997 Feb;7(1):101-42. PMID: 9100234

Prognosis

Cendes F, Sakamoto AC, Spreafico R, Bingaman W, Becker AJ
Acta Neuropathol 2014 Jul;128(1):21-37. Epub 2014 May 14 doi: 10.1007/s00401-014-1292-0. PMID: 24823761
Leech R, Sharp DJ
Brain 2014 Jan;137(Pt 1):12-32. Epub 2013 Jul 18 doi: 10.1093/brain/awt162. PMID: 23869106Free PMC Article
Volpe P, Campobasso G, De Robertis V, Rembouskos G
Prenat Diagn 2009 Apr;29(4):340-54. doi: 10.1002/pd.2208. PMID: 19184971
Settle M
Neonatal Netw 2000 Sep;19(6):9-14. doi: 10.1891/0730-0832.19.6.9. PMID: 11949123
Valenstein E, Bowers D, Verfaellie M, Heilman KM, Day A, Watson RT
Brain 1987 Dec;110 ( Pt 6):1631-46. doi: 10.1093/brain/110.6.1631. PMID: 3427404

Clinical prediction guides

Hu X, Shang N
Prenat Diagn 2023 Jun;43(6):763-772. Epub 2023 Jan 29 doi: 10.1002/pd.6316. PMID: 36670513
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article
Duman CH, Duman RS
Neurosci Lett 2015 Aug 5;601:20-9. Epub 2015 Jan 9 doi: 10.1016/j.neulet.2015.01.022. PMID: 25582786Free PMC Article
Leech R, Sharp DJ
Brain 2014 Jan;137(Pt 1):12-32. Epub 2013 Jul 18 doi: 10.1093/brain/awt162. PMID: 23869106Free PMC Article
Weickert CS, Kleinman JE
Psychiatr Clin North Am 1998 Mar;21(1):57-75. doi: 10.1016/s0193-953x(05)70361-0. PMID: 9551491

Recent systematic reviews

Li Y, Liu P, Lin Q, Zhou D, An D
Epilepsia 2023 Nov;64(11):2845-2860. Epub 2023 Sep 30 doi: 10.1111/epi.17757. PMID: 37611927
Mutti C, Riccò M, Bartolini Y, Bernabè G, Trippi I, Melpignano A, Ciliento R, Zinno L, Florindo I, Sasso E, Odone A, Parrino L, Vaudano AE
Epilepsia 2021 Feb;62(2):383-396. Epub 2020 Dec 16 doi: 10.1111/epi.16787. PMID: 33325054
Esposito D, Trimpou P, Giugliano D, Dehlin M, Ragnarsson O
Pituitary 2017 Oct;20(5):594-601. doi: 10.1007/s11102-017-0811-0. PMID: 28540625Free PMC Article
Hanford LC, Nazarov A, Hall GB, Sassi RB
Bipolar Disord 2016 Feb;18(1):4-18. Epub 2016 Feb 6 doi: 10.1111/bdi.12362. PMID: 26851067
Borges S, Gayer-Anderson C, Mondelli V
Psychoneuroendocrinology 2013 May;38(5):603-11. Epub 2013 Jan 28 doi: 10.1016/j.psyneuen.2012.12.025. PMID: 23369532

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