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Congenital absence of foreskin

MedGen UID:
660782
•Concept ID:
C0577242
•
Finding
Synonyms: Absent foreskin; Aposthia; Foreskin absent
SNOMED CT: Foreskin absent (300519001)
 
HPO: HP:0012421

Definition

Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital absence of foreskin

Recent clinical studies

Diagnosis

Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form.
Sbidian E, Feldmann D, Bengoa J, Fraitag S, Abadie V, de Prost Y, Bodemer C, Hadj-Rabia S
Clin Genet 2010 Jun;77(6):587-92. Epub 2010 Apr 14 doi: 10.1111/j.1399-0004.2009.01339.x. PMID: 20412116

Clinical prediction guides

Human Cytomegalovirus Interactions with the Basement Membrane Protein Nidogen 1.
Kuan MI, Jaeger HK, Balemba OB, O'Dowd JM, Duricka D, Hannemann H, Marx E, Teissier N, Gabrielli L, Bonasoni MP, Keithley EM, Fortunato EA
J Virol 2021 Jan 13;95(3) doi: 10.1128/JVI.01506-20. PMID: 33177203Free PMC Article
Insulin-like growth factor 1, but not growth hormone, has in vitro proliferative effects on neonatal foreskin fibroblasts without affecting 5-alpha-reductase or androgen receptor activity.
Dykstra KD, Payne AM, Abdelrahim M, Francis GL
J Androl 1993 Mar-Apr;14(2):73-8. PMID: 8514622

Supplemental Content

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