Definition

Lower eyelid partly covered by skin when eyes are open. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHooded lower eyelid

Abnormality of the face
- Abnormality of the orbital region
  - Abnormality of the ocular adnexa
    - Abnormal ocular adnexa morphology
      - Abnormal eyelid morphology
        Hooded eyelid
        Hooded lower eyelid

Recent clinical studies

Etiology

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Valenzuela I, Codina-Solà M, Vazquez E, Cueto-González A, Leno-Colorado J, Lasa-Aranzasti A, Trujillano L, Masotto B, Masas M, Escobar M, García-Arumí E, Tizzano EF
Genet Med 2024 Dec;26(12):101288. Epub 2024 Oct 2 doi: 10.1016/j.gim.2024.101288. PMID: 39369315

An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience.

Denkboy Öngen Y, Özemri Sağ Ş, Temel ŞG, Eren E
J Clin Res Pediatr Endocrinol 2023 Aug 23;15(3):285-292. Epub 2023 Apr 19 doi: 10.4274/jcrpe.galenos.2023.2022-11-3. PMID: 37074225 Free PMC Article

See all (2)

Diagnosis

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Valenzuela I, Codina-Solà M, Vazquez E, Cueto-González A, Leno-Colorado J, Lasa-Aranzasti A, Trujillano L, Masotto B, Masas M, Escobar M, García-Arumí E, Tizzano EF
Genet Med 2024 Dec;26(12):101288. Epub 2024 Oct 2 doi: 10.1016/j.gim.2024.101288. PMID: 39369315

An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience.

Denkboy Öngen Y, Özemri Sağ Ş, Temel ŞG, Eren E
J Clin Res Pediatr Endocrinol 2023 Aug 23;15(3):285-292. Epub 2023 Apr 19 doi: 10.4274/jcrpe.galenos.2023.2022-11-3. PMID: 37074225 Free PMC Article

See all (2)

Clinical prediction guides

An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience.

Denkboy Öngen Y, Özemri Sağ Ş, Temel ŞG, Eren E
J Clin Res Pediatr Endocrinol 2023 Aug 23;15(3):285-292. Epub 2023 Apr 19 doi: 10.4274/jcrpe.galenos.2023.2022-11-3. PMID: 37074225 Free PMC Article

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Hooded lower eyelid

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Related information

Recent activity