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Enlarged labia minora

MedGen UID:
340305
Concept ID:
C1849358
Finding
Synonym: Labia minora hypertrophy
 
HPO: HP:0008683

Definition

Increase in size of the folds of skin between the outer labia. [from HPO]

Conditions with this feature

Roberts-SC phocomelia syndrome
MedGen UID:
95931
Concept ID:
C0392475
Disease or Syndrome
ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.
Ramon syndrome
MedGen UID:
208669
Concept ID:
C0796133
Disease or Syndrome
A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.
Genitopatellar syndrome
MedGen UID:
381208
Concept ID:
C1853566
Disease or Syndrome
KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity; individuals presenting with a phenotype intermediate between GPS and SBBYSS have been reported. Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips, and anomalies of the digits, spine, and/or ribs. Congenital heart defects, small bowel malrotation, feeding difficulties, slow growth, cleft palate, hearing loss, and dental anomalies have been observed in individuals with either phenotype.

Professional guidelines

PubMed

Qin F, Xia Z, Yang Y, Kang Y, Zhang M, Shan M, Zhu L, Long X
Aesthet Surg J 2023 Jun 14;43(7):NP516-NP527. doi: 10.1093/asj/sjad049. PMID: 36882064

Recent clinical studies

Etiology

Clerico C, Lari A, Mojallal A, Boucher F
Aesthetic Plast Surg 2017 Jun;41(3):714-719. Epub 2017 Mar 10 doi: 10.1007/s00266-017-0831-1. PMID: 28314908

Diagnosis

Clerico C, Lari A, Mojallal A, Boucher F
Aesthetic Plast Surg 2017 Jun;41(3):714-719. Epub 2017 Mar 10 doi: 10.1007/s00266-017-0831-1. PMID: 28314908
Hagisawa S, Shimura N, Arisaka O
J Pediatr Adolesc Gynecol 2012 Jun;25(3):e61-3. Epub 2011 Dec 28 doi: 10.1016/j.jpag.2011.11.005. PMID: 22206682

Clinical prediction guides

Hagisawa S, Shimura N, Arisaka O
J Pediatr Adolesc Gynecol 2012 Jun;25(3):e61-3. Epub 2011 Dec 28 doi: 10.1016/j.jpag.2011.11.005. PMID: 22206682

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