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Midline cervical cleft

MedGen UID:
1374384
Concept ID:
C4479645
Congenital Abnormality
Synonym: Midline brainstem cleft
SNOMED CT: Midline cervical cleft (403557001)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0033645
Monarch Initiative: MONDO:0015419
Orphanet: ORPHA141288

Definition

A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons. [from HPO]

Term Hierarchy

Conditions with this feature

Gaze palsy, familial horizontal, with progressive scoliosis, 2
MedGen UID:
1393733
Concept ID:
C4479640
Disease or Syndrome

Recent clinical studies

Etiology

Stefanko NS, Davies OMT, Beato MJ, Blei F, Drolet BA, Fairley J, Frieden IJ, Galligan ER, Goddard D, Howard R, Husain S, Lauren CT, Lopez-Gutierrez JC, MacArthur C, Metry DW, Morel KD, Niedt GW, Garzon MC, Sokumbi O, Siegel DH
Pediatr Dermatol 2020 Jan;37(1):78-85. Epub 2019 Oct 20 doi: 10.1111/pde.14006. PMID: 31631401
D'Souza JN, Valika T, Maddalozzo J
Int J Pediatr Otorhinolaryngol 2019 Dec;127:109657. Epub 2019 Aug 23 doi: 10.1016/j.ijporl.2019.109657. PMID: 31491734
Achard S, Leroy X, Fayoux P
Int J Pediatr Otorhinolaryngol 2016 Feb;81:60-4. Epub 2015 Dec 29 doi: 10.1016/j.ijporl.2015.12.008. PMID: 26810292
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Eastlack JP, Howard RM, Frieden IJ
Pediatr Dermatol 2000 Mar-Apr;17(2):118-22. doi: 10.1046/j.1525-1470.2000.01727.x. PMID: 10792800

Diagnosis

Stefanko NS, Davies OMT, Beato MJ, Blei F, Drolet BA, Fairley J, Frieden IJ, Galligan ER, Goddard D, Howard R, Husain S, Lauren CT, Lopez-Gutierrez JC, MacArthur C, Metry DW, Morel KD, Niedt GW, Garzon MC, Sokumbi O, Siegel DH
Pediatr Dermatol 2020 Jan;37(1):78-85. Epub 2019 Oct 20 doi: 10.1111/pde.14006. PMID: 31631401
D'Souza JN, Valika T, Maddalozzo J
Int J Pediatr Otorhinolaryngol 2019 Dec;127:109657. Epub 2019 Aug 23 doi: 10.1016/j.ijporl.2019.109657. PMID: 31491734
Villanueva-Meyer J, Glastonbury C, Marcovici P
J Radiol Case Rep 2015 Mar;9(3):7-11. Epub 2015 Mar 31 doi: 10.3941/jrcr.v9i3.2202. PMID: 25926928Free PMC Article
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Agag R, Sacks J, Silver L
Cleft Palate Craniofac J 2007 Jan;44(1):98-101. doi: 10.1597/05-138. PMID: 17214531

Therapy

D'Souza JN, Valika T, Maddalozzo J
Int J Pediatr Otorhinolaryngol 2019 Dec;127:109657. Epub 2019 Aug 23 doi: 10.1016/j.ijporl.2019.109657. PMID: 31491734
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555

Prognosis

Masood MM, Mieczkowski P, Malc EP, Foreman AKM, Evans JP, Clark JM, Rose AS
Ann Otol Rhinol Laryngol 2020 Jul;129(7):653-656. Epub 2020 Feb 6 doi: 10.1177/0003489420906180. PMID: 32028786
Achard S, Leroy X, Fayoux P
Int J Pediatr Otorhinolaryngol 2016 Feb;81:60-4. Epub 2015 Dec 29 doi: 10.1016/j.ijporl.2015.12.008. PMID: 26810292
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
McInnes CW, Benson AD, Verchere CG, Ludemann JP, Arneja JS
J Craniofac Surg 2012 Jan;23(1):e36-8. doi: 10.1097/SCS.0b013e318241db99. PMID: 22337458
Eastlack JP, Howard RM, Frieden IJ
Pediatr Dermatol 2000 Mar-Apr;17(2):118-22. doi: 10.1046/j.1525-1470.2000.01727.x. PMID: 10792800

Clinical prediction guides

Masood MM, Mieczkowski P, Malc EP, Foreman AKM, Evans JP, Clark JM, Rose AS
Ann Otol Rhinol Laryngol 2020 Jul;129(7):653-656. Epub 2020 Feb 6 doi: 10.1177/0003489420906180. PMID: 32028786
Achard S, Leroy X, Fayoux P
Int J Pediatr Otorhinolaryngol 2016 Feb;81:60-4. Epub 2015 Dec 29 doi: 10.1016/j.ijporl.2015.12.008. PMID: 26810292
Franzese C, Hayes JD, Nichols K
Ear Nose Throat J 2008 Mar;87(3):166-8. PMID: 18404916

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