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Phimosis

MedGen UID:
87496
Concept ID:
C0345326
Congenital Abnormality
Synonyms: Congenital phimosis; Congenital Phimosis; phimosis; tight foreskin; tight frenulum
SNOMED CT: Congenital phimosis (253854008)
 
HPO: HP:0001741
Monarch Initiative: MONDO:0006904

Definition

The male foreskin cannot be fully retracted from the head of the penis. [from HPO]

Conditions with this feature

Kindler syndrome
MedGen UID:
96060
Concept ID:
C0406557
Disease or Syndrome
Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (most prominent during childhood and usually decreasing after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. Mucosal manifestations are also common and include hemorrhagic mucositis and gingivitis, periodontal disease, premature loss of teeth, and labial leukokeratosis. Other mucosal findings can include ectropion, urethral stenosis, and severe phimosis. Severe long-term complications of KS include periodontitis, mucosal strictures, and aggressive squamous cell carcinomas. Manifestations can range from mild to severe.
Kabuki syndrome
MedGen UID:
162897
Concept ID:
C0796004
Congenital Abnormality
Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.
Renpenning syndrome
MedGen UID:
208670
Concept ID:
C0796135
Disease or Syndrome
Renpenning syndrome is an X-linked syndromic intellectual developmental disorder with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.
Dyskeratosis congenita, X-linked
MedGen UID:
216941
Concept ID:
C1148551
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
SIN3A-related intellectual disability syndrome due to a point mutation
MedGen UID:
934771
Concept ID:
C4310804
Disease or Syndrome
Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder with characteristic distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging (summary by Balasubramanian et al., 2021).
Short stature and microcephaly with genital anomalies
MedGen UID:
1684791
Concept ID:
C5231467
Disease or Syndrome
Short stature and microcephaly with genital anomalies (SSMGA) is characterized by severe growth failure, with extreme short stature, microcephaly, and delayed and dissociated bone age. Global psychomotor developmental delay may be present, although the brain appears structurally normal. Pubertal delay and genital anomalies have been observed (Hung et al., 2017).
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
MedGen UID:
1841290
Concept ID:
C5830654
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures (NEDHSS) is characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay. Most affected individuals are severely affected and may be unable to walk, have feeding difficulties requiring tube-feeding, and develop early-onset seizures. Additional features may include cortical blindness and nonspecific structural brain abnormalities. Rare individuals present only with hypotonia and mild developmental delay (Paul et al., 2023).

Professional guidelines

PubMed

Huen K, Richardson S
Adv Pediatr 2024 Aug;71(1):169-179. Epub 2024 Jan 6 doi: 10.1016/j.yapd.2023.12.001. PMID: 38944481
Fox W, McKenna PH
J Pediatr Urol 2024;20 Suppl 1:S66-S73. Epub 2024 Jun 11 doi: 10.1016/j.jpurol.2024.06.007. PMID: 38918118
Hakenberg OW, Dräger DL, Erbersdobler A, Naumann CM, Jünemann KP, Protzel C
Dtsch Arztebl Int 2018 Sep 28;115(39):646-652. doi: 10.3238/arztebl.2018.0646. PMID: 30375327Free PMC Article

Recent clinical studies

Etiology

Thomas A, Necchi A, Muneer A, Tobias-Machado M, Tran ATH, Van Rompuy AS, Spiess PE, Albersen M
Nat Rev Dis Primers 2021 Feb 11;7(1):11. doi: 10.1038/s41572-021-00246-5. PMID: 33574340
Valdebran M, Wine Lee L
Curr Opin Pediatr 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. PMID: 32692048
Omole F, Smith W, Carter-Wicker K
Am Fam Physician 2020 Jun 1;101(11):680-685. PMID: 32463643
Hakenberg OW, Dräger DL, Erbersdobler A, Naumann CM, Jünemann KP, Protzel C
Dtsch Arztebl Int 2018 Sep 28;115(39):646-652. doi: 10.3238/arztebl.2018.0646. PMID: 30375327Free PMC Article
Castagnetti M, Bagnara V, Rigamonti W, Cimador M, Esposito C
J Pediatr Urol 2017 Feb;13(1):102-109. Epub 2016 Sep 22 doi: 10.1016/j.jpurol.2016.07.018. PMID: 27773620

Diagnosis

Xu AJ, Mishra K, Zhao LC
Urology 2022 Aug;166:271-276. Epub 2022 Apr 14 doi: 10.1016/j.urology.2022.03.030. PMID: 35430235
Thomas A, Necchi A, Muneer A, Tobias-Machado M, Tran ATH, Van Rompuy AS, Spiess PE, Albersen M
Nat Rev Dis Primers 2021 Feb 11;7(1):11. doi: 10.1038/s41572-021-00246-5. PMID: 33574340
Hayashi Y, Kojima Y, Mizuno K, Kohri K
ScientificWorldJournal 2011 Feb 3;11:289-301. doi: 10.1100/tsw.2011.31. PMID: 21298220Free PMC Article
Ference JD, Last AR
Am Fam Physician 2009 Jan 15;79(2):135-40. PMID: 19178066
Wabrek AJ, Wabrek CJ
J Sex Marital Ther 1975 Spring;1(3):234-41. doi: 10.1080/00926237508405293. PMID: 1225983

Therapy

Prabhakaran S, Ljuhar D, Coleman R, Nataraja RM
J Paediatr Child Health 2018 Dec;54(12):1299-1307. Epub 2018 Sep 23 doi: 10.1111/jpc.14206. PMID: 30246352
Liu J, Yang J, Chen Y, Cheng S, Xia C, Deng T
Int Urol Nephrol 2016 Mar;48(3):335-42. Epub 2016 Jan 2 doi: 10.1007/s11255-015-1184-9. PMID: 26725071
Ference JD, Last AR
Am Fam Physician 2009 Jan 15;79(2):135-40. PMID: 19178066
Holman JR, Stuessi KA
Am Fam Physician 1999 Mar 15;59(6):1514-8. PMID: 10193593
Wabrek AJ, Wabrek CJ
J Sex Marital Ther 1975 Spring;1(3):234-41. doi: 10.1080/00926237508405293. PMID: 1225983

Prognosis

Xu AJ, Mishra K, Zhao LC
Urology 2022 Aug;166:271-276. Epub 2022 Apr 14 doi: 10.1016/j.urology.2022.03.030. PMID: 35430235
Thomas A, Necchi A, Muneer A, Tobias-Machado M, Tran ATH, Van Rompuy AS, Spiess PE, Albersen M
Nat Rev Dis Primers 2021 Feb 11;7(1):11. doi: 10.1038/s41572-021-00246-5. PMID: 33574340
Nguyen ATM, Holland AJA
Eur J Pediatr 2020 Jan;179(1):9-16. Epub 2019 Nov 23 doi: 10.1007/s00431-019-03516-3. PMID: 31760506
Hakenberg OW, Dräger DL, Erbersdobler A, Naumann CM, Jünemann KP, Protzel C
Dtsch Arztebl Int 2018 Sep 28;115(39):646-652. doi: 10.3238/arztebl.2018.0646. PMID: 30375327Free PMC Article
Wren T
Nurs Clin North Am 2004 Jun;39(2):319-26. doi: 10.1016/j.cnur.2004.01.004. PMID: 15159182

Clinical prediction guides

Moreno G, Ramirez C, Corbalán J, Peñaloza B, Morel Marambio M, Pantoja T
Cochrane Database Syst Rev 2024 Jan 25;1(1):CD008973. doi: 10.1002/14651858.CD008973.pub3. PMID: 38269441Free PMC Article
Mrinakova B, Ondrušová M, Švantnerová M, Ondruš D
Klin Onkol 2019 Winter;32(1):31-39. doi: 10.14735/amko201931. PMID: 30764627
Starzyk EJ, Kelley MA, Caskey RN, Schwartz A, Kennelly JF, Bailey RC
PLoS One 2015;10(1):e0115891. Epub 2015 Jan 30 doi: 10.1371/journal.pone.0115891. PMID: 25635664Free PMC Article
Buluggiu A, Panait N, Anastasescu R, Merrot T, Alessandrini P
Urology 2013 Mar;81(3):649-52. Epub 2013 Jan 24 doi: 10.1016/j.urology.2012.11.024. PMID: 23352367
Chaux A, Cubilla AL
Hum Pathol 2012 Jun;43(6):771-89. doi: 10.1016/j.humpath.2012.01.014. PMID: 22595011

Recent systematic reviews

Morris BJ, Matthews JG, Krieger JN
Urology 2020 Jan;135:124-132. Epub 2019 Oct 23 doi: 10.1016/j.urology.2019.10.003. PMID: 31655079
Liu J, Yang J, Chen Y, Cheng S, Xia C, Deng T
Int Urol Nephrol 2016 Mar;48(3):335-42. Epub 2016 Jan 2 doi: 10.1007/s11255-015-1184-9. PMID: 26725071
Moreno G, Corbalán J, Peñaloza B, Pantoja T
Cochrane Database Syst Rev 2014 Sep 2;2014(9):CD008973. doi: 10.1002/14651858.CD008973.pub2. PMID: 25180668Free PMC Article
Larke NL, Thomas SL, dos Santos Silva I, Weiss HA
Cancer Causes Control 2011 Aug;22(8):1097-110. Epub 2011 Jun 22 doi: 10.1007/s10552-011-9785-9. PMID: 21695385Free PMC Article
Bleeker MC, Heideman DA, Snijders PJ, Horenblas S, Dillner J, Meijer CJ
World J Urol 2009 Apr;27(2):141-50. Epub 2008 Jul 8 doi: 10.1007/s00345-008-0302-z. PMID: 18607597

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