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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.
See: This record
Not genetically inherited (Orphanet)
 
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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMidline cervical cleft

Conditions with this feature

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

Recent clinical studies

Etiology

Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes.
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
Surgical management of midline cervical cleft.
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
Congenital midline cervical cleft: A retrospective case series of 8 children.
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
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Congenital midline cervical cleft: case report and review of the English language literature.
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

Congenital Midline Cervical Cleft and Thyroglossal Duct Fibrous Cord-Like, is There a Mixed Presentation?
Kruschewsky LS, Matos LL, Alonso N, Seidler CDS, Lisboa SRO, Silva RCLS, Goldenberg DC, Silva TVN
J Craniofac Surg 2023 Sep 1;34(6):e546-e549. Epub 2023 Jul 27 doi: 10.1097/SCS.0000000000009559. PMID: 37497785
Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes.
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
Surgical management of midline cervical cleft.
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
Congenital midline cervical cleft.
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
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555

Therapy

Surgical management of midline cervical cleft.
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
Congenital lesions of epithelial origin.
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

Congenital Midline Cervical Cleft: First Report and Genetic Analysis of Two Related Patients.
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
Congenital midline cervical cleft: A retrospective case series of 8 children.
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
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Management of congenital midline cervical cleft.
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
Congenital midline cervical cleft: case report and review of the English language literature.
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

Congenital Midline Cervical Cleft: First Report and Genetic Analysis of Two Related Patients.
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
Congenital midline cervical cleft: A retrospective case series of 8 children.
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
Congenital midline cervical cleft: a report of two cases.
Franzese C, Hayes JD, Nichols K
Ear Nose Throat J 2008 Mar;87(3):166-8. PMID: 18404916

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