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Absence of labia majora

MedGen UID:: 341488
•Concept ID:: C1849575
•: Finding

Synonym:	Absent vaginal lips

HPO:	HP:0008729

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbsence of labia majora

Abnormality of the genital system
- Abnormal reproductive system morphology
  - Abnormality of the female genitalia
    - Abnormal female external genitalia morphology
      - Abnormal labia morphology
        Abnormal labia majora morphology
        Absence of labia majora

Conditions with this feature

Autosomal recessive multiple pterygium syndrome

MedGen UID:: 82696
•Concept ID:: C0265261
•: Congenital Abnormality

Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.

See: Condition Record

Autosomal recessive multiple pterygium syndrome

Recent clinical studies

Etiology

Clitoral preputial edema can be mistaken for clitoromegaly: a clinical analysis of ten cases.

Mitani-Konno M, Saito R, Narumi-Wakayama H, Sakai Y, Suzuki S, Satoh H, Hasegawa Y
Front Endocrinol (Lausanne) 2023;14:1175611. Epub 2023 Jul 7 doi: 10.3389/fendo.2023.1175611. PMID: 37484939 Free PMC Article

Refinement Procedures for Clitorolabiaplasty in Male-to-Female Gender-Affirmation Surgery: More than an Aesthetic Procedure.

Raigosa M, Avvedimento S, Descarrega J, Yuste M, Cruz-Gimeno J, Fontdevila J
J Sex Med 2020 Dec;17(12):2508-2517. Epub 2020 Sep 3 doi: 10.1016/j.jsxm.2020.08.006. PMID: 32891560

Anatomy and histology of the newly discovered adipose sac structure within the labia majora: international original research.

Ostrzenski A, Krajewski P, Davis K
Arch Gynecol Obstet 2016 Sep;294(3):549-54. Epub 2016 Apr 11 doi: 10.1007/s00404-016-4052-7. PMID: 27067433

Protruding labia minora: abnormal or just uncool?

Michala L, Koliantzaki S, Antsaklis A
J Psychosom Obstet Gynaecol 2011 Sep;32(3):154-6. Epub 2011 Jun 23 doi: 10.3109/0167482X.2011.585726. PMID: 21696338

Atypical melanocytic nevi of the genital type with a discussion of reciprocal parenchymal-stromal interactions in the biology of neoplasia.

Clark WH Jr, Hood AF, Tucker MA, Jampel RM
Hum Pathol 1998 Jan;29(1 Suppl 1):S1-24. doi: 10.1016/s0046-8177(98)80028-2. PMID: 9445124

See all (8)

Diagnosis

Clitoral preputial edema can be mistaken for clitoromegaly: a clinical analysis of ten cases.

Laparoscopy Assisted Peritoneal Pull-Through Vaginoplasty in Transgender Women.

Castanon CDG, Matic S, Bizic M, Stojanovic B, Bencic M, Grubor N, Pusica S, Korac G, Djordjevic ML
Urology 2022 Aug;166:301-302. Epub 2022 May 10 doi: 10.1016/j.urology.2022.05.001. PMID: 35550383

Male and female aphallia associated with severe urinary tract dysplasia.

Friedman AA, Zelkovic PF, Reda EF, Franco I, Palmer LS
J Pediatr Urol 2016 Aug;12(4):268.e1-7. Epub 2016 Jun 11 doi: 10.1016/j.jpurol.2016.04.040. PMID: 27522318

Giant labial fibroepithelial stromal polyp.

Chan MM, Yong TT, Sittampalam K
Malays J Pathol 2013 Jun;35(1):91-4. PMID: 23817400

A case of Mayer-Rokitansky-Kuster-Hayser syndrome with absence of the right thumb.

Pal R, Manglik A, Sinha N
Saudi J Kidney Dis Transpl 2008 Mar;19(2):236-40. PMID: 18310874

See all (11)

Therapy

Perineal hemangioma, anorectal malformation, and genital anomaly: a new association?

Bouchard S, Yazbeck S, Lallier M
J Pediatr Surg 1999 Jul;34(7):1133-5. doi: 10.1016/s0022-3468(99)90584-5. PMID: 10442608

See all (1)

Prognosis

Clitoral preputial edema can be mistaken for clitoromegaly: a clinical analysis of ten cases.

Perineal hemangioma, anorectal malformation, and genital anomaly: a new association?

Bouchard S, Yazbeck S, Lallier M
J Pediatr Surg 1999 Jul;34(7):1133-5. doi: 10.1016/s0022-3468(99)90584-5. PMID: 10442608

See all (2)

Clinical prediction guides

Giant labial fibroepithelial stromal polyp.

Chan MM, Yong TT, Sittampalam K
Malays J Pathol 2013 Jun;35(1):91-4. PMID: 23817400

Cloacal dysgenesis sequence: observations in four patients including three fetuses of second trimester gestation.

Liang X, Ioffe OB, Sun CC
Pediatr Dev Pathol 1998 Jul-Aug;1(4):281-8. doi: 10.1007/s100249900040. PMID: 10463289

See all (2)

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Absence of labia majora

Term Hierarchy

Conditions with this feature

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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