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Penoscrotal transposition

MedGen UID:
357036
Concept ID:
C1868854
Congenital Abnormality
Synonyms: Congenital transposition of the penis; Penoscrotal transposition (disease)
SNOMED CT: Congenital penoscrotal transposition (312005008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0100600
Monarch Initiative: MONDO:0017285
Orphanet: ORPHA2842

Definition

A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis. [from HPO]

Conditions with this feature

Chromosome 13q33-q34 deletion syndrome
MedGen UID:
1744234
Concept ID:
C5436890
Disease or Syndrome
Chromosome 13q33-q34 deletion syndrome is associated with developmental delay and/or impaired intellectual development, facial dysmorphism, and an increased risk for epilepsy, cardiac defects and additional anatomic anomalies (summary by Sagi-Dain et al., 2019).

Professional guidelines

PubMed

Li K, Zhang X, Yan G, Zheng W, Zou Y
J Magn Reson Imaging 2021 Jun;53(6):1862-1870. Epub 2021 Feb 19 doi: 10.1002/jmri.27519. PMID: 33608950
Wang Y, Cai A, Sun J, Li T, Wang B, Li J
J Ultrasound Med 2011 Oct;30(10):1397-401. doi: 10.7863/jum.2011.30.10.1397. PMID: 21968491

Recent clinical studies

Etiology

D'Oro A, Rosoklija I, Yerkes EB, Lindgren BW, Rychlik K, Cheng EY
J Urol 2021 Nov;206(5):1291-1299. Epub 2021 Jul 12 doi: 10.1097/JU.0000000000001944. PMID: 34251872
Macedo A Jr, Ottoni SL, Di Migueli RDD, de Mattos RM, Garrone G, Leal da Cruz M
J Pediatr Urol 2021 Oct;17(5):690.e1-690.e6. Epub 2021 Jun 6 doi: 10.1016/j.jpurol.2021.06.001. PMID: 34158249
Lasso Betancor CE, Cherian A, Smeulders N, Mushtaq I, Cuckow P
J Pediatr Urol 2019 May;15(3):243.e1-243.e6. Epub 2019 Feb 20 doi: 10.1016/j.jpurol.2019.02.007. PMID: 30878211
Chen Y, Zhang J, Ji C, Liang W, Pan S, Wu B
Ann Plast Surg 2016 Jun;76(6):693-6. doi: 10.1097/SAP.0000000000000345. PMID: 27176562
Utsch B, Albers N, Ludwig M
Eur J Pediatr Surg 2004 Oct;14(5):297-302. doi: 10.1055/s-2004-821275. PMID: 15543478

Diagnosis

Baky Fahmy MA, Altramsy A, Ayad MAM
Birth Defects Res 2024 Jul;116(7):e2376. doi: 10.1002/bdr2.2376. PMID: 39001683
Bai G, Liang F, Zhao T, Deng F, Fu K, Chen X, Li Z, Zhang L, Jia W, Fu W, Liu G
Eur J Med Res 2022 Jul 18;27(1):125. doi: 10.1186/s40001-022-00744-6. PMID: 35843999Free PMC Article
Bose S, Das K, George B, Raman V, Shubha AM, Mahadevappa K, Kumar P, Bantwal G, Ayyar V, Deb M
J Pediatr Urol 2022 Aug;18(4):492.e1-492.e8. Epub 2022 May 19 doi: 10.1016/j.jpurol.2022.05.011. PMID: 35668006
Nakamura Y, Jennings RW, Connolly S, Diamond DA
Fetal Diagn Ther 2010;27(3):164-7. Epub 2010 Mar 10 doi: 10.1159/000295807. PMID: 20215739
Mandell J, Bromley B, Peters CA, Benacerraf BR
J Urol 1995 Jun;153(6):1994-6. PMID: 7752382

Therapy

Alyami F, Ferandez N, Koyle MA, Salle JP
J Pediatr Urol 2019 Feb;15(1):48.e1-48.e8. Epub 2018 Aug 8 doi: 10.1016/j.jpurol.2018.08.003. PMID: 30206024
Arlen AM, Kirsch AJ, Leong T, Broecker BH, Smith EA, Elmore JM
J Pediatr Urol 2015 Apr;11(2):71.e1-5. Epub 2015 Feb 26 doi: 10.1016/j.jpurol.2014.11.015. PMID: 25797855
Villarreal DD, Villarreal H, Paez AM, Peppas D, Lynch J, Roeder E, Powers GC
Am J Med Genet A 2013 Dec;161A(12):3121-5. Epub 2013 Oct 2 doi: 10.1002/ajmg.a.36086. PMID: 24115482
Mokhless I, Youssif M, Eltayeb M, Hanna M
J Pediatr Urol 2011 Jun;7(3):305-9. Epub 2011 Apr 27 doi: 10.1016/j.jpurol.2011.02.023. PMID: 21527222
Dindar H, Kanmaz T, Cakmak M, Savaş C, Yücesan S
Turk J Pediatr 1999 Jan-Mar;41(1):147-50. PMID: 10770692

Prognosis

D'Oro A, Rosoklija I, Yerkes EB, Lindgren BW, Rychlik K, Cheng EY
J Urol 2021 Nov;206(5):1291-1299. Epub 2021 Jul 12 doi: 10.1097/JU.0000000000001944. PMID: 34251872
Li K, Zhang X, Yan G, Zheng W, Zou Y
J Magn Reson Imaging 2021 Jun;53(6):1862-1870. Epub 2021 Feb 19 doi: 10.1002/jmri.27519. PMID: 33608950
Mikuz G
Pathologe 2019 Jun;40(Suppl 1):1-8. doi: 10.1007/s00292-018-0505-z. PMID: 30446779
Chen Y, Zhang J, Ji C, Liang W, Pan S, Wu B
Ann Plast Surg 2016 Jun;76(6):693-6. doi: 10.1097/SAP.0000000000000345. PMID: 27176562
Arlen AM, Kirsch AJ, Leong T, Broecker BH, Smith EA, Elmore JM
J Pediatr Urol 2015 Apr;11(2):71.e1-5. Epub 2015 Feb 26 doi: 10.1016/j.jpurol.2014.11.015. PMID: 25797855

Clinical prediction guides

D'Oro A, Rosoklija I, Yerkes EB, Lindgren BW, Rychlik K, Cheng EY
J Urol 2021 Nov;206(5):1291-1299. Epub 2021 Jul 12 doi: 10.1097/JU.0000000000001944. PMID: 34251872
Li K, Zhang X, Yan G, Zheng W, Zou Y
J Magn Reson Imaging 2021 Jun;53(6):1862-1870. Epub 2021 Feb 19 doi: 10.1002/jmri.27519. PMID: 33608950
Vilanova-Sanchez A, Reck CA, Sebastião YV, Fuchs M, Halleran DR, Weaver L, Gregory Bates D, Gasior AC, Maloof T, Hoover EJ, Jaggers J, Gagnon R, Ching CC, Dajusta D, Jayanthi VR, Levitt MA, Wood RJ
J Pediatr Surg 2018 Nov;53(11):2178-2182. Epub 2018 Mar 23 doi: 10.1016/j.jpedsurg.2018.03.018. PMID: 29680275
Arlen AM, Kirsch AJ, Leong T, Broecker BH, Smith EA, Elmore JM
J Pediatr Urol 2015 Apr;11(2):71.e1-5. Epub 2015 Feb 26 doi: 10.1016/j.jpurol.2014.11.015. PMID: 25797855
Braga LH, Pippi Salle JL, Lorenzo AJ, Skeldon S, Dave S, Farhat WA, Khoury AE, Bagli DJ
J Urol 2007 Oct;178(4 Pt 1):1451-6; discussion 1456-7. Epub 2007 Aug 16 doi: 10.1016/j.juro.2007.05.170. PMID: 17706707

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