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Absence of labia majora

MedGen UID:
341488
•Concept ID:
C1849575
•
Finding
Synonym: Absent vaginal lips
 
HPO: HP:0008729

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: 37484939Free 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

Diagnosis

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: 37484939Free PMC Article
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
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
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

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

Prognosis

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: 37484939Free PMC Article
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

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

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