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Midline brainstem cleft

MedGen UID:
1374384
Concept ID:
C4479645
Congenital Abnormality
Synonym: Midline cervical 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

Diagnosis

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
Moreno SD, Christopher P, Kloostra P
J Craniofac Surg 2023 Jan-Feb 01;34(1):e38-e41. Epub 2022 Aug 19 doi: 10.1097/SCS.0000000000008940. PMID: 35984004

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