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Enuresis

MedGen UID:
8649
Concept ID:
C0014394
Disease or Syndrome
Synonym: enuresis
 
HPO: HP:0000805
Monarch Initiative: MONDO:0024290

Definition

Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. [from HPO]

Conditions with this feature

Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Familial hypokalemia-hypomagnesemia
MedGen UID:
75681
Concept ID:
C0268450
Disease or Syndrome
Gitelman syndrome (GTLMNS) is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (607364). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.
Ochoa syndrome
MedGen UID:
98015
Concept ID:
C0403555
Disease or Syndrome
Urofacial syndrome (UFS) is characterized by prenatal or infantile onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation and/or encopresis). Bladder voiding dysfunction increases the risk for urinary incontinence, megacystis, vesicoureteric reflux, hydroureteronephrosis, urosepsis, and progressive renal impairment. In rare instances, an individual who has (a) a molecularly confirmed diagnosis and/or (b) an affected relative meeting clinical diagnostic criteria manifests only the characteristic facial features or only the urinary bladder voiding dysfunction (not both). Nocturnal lagophthalmos (incomplete closing of the eyes during sleep) appears to be a common and significant finding.
Senior-loken syndrome 3
MedGen UID:
335569
Concept ID:
C1846980
Disease or Syndrome
Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.\n\nNephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.\n\nLeber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.
Nephronophthisis 3
MedGen UID:
346809
Concept ID:
C1858392
Disease or Syndrome
The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).
Spinocerebellar ataxia type 29
MedGen UID:
350085
Concept ID:
C1861732
Disease or Syndrome
Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
EAST syndrome
MedGen UID:
411243
Concept ID:
C2748572
Disease or Syndrome
Syndrome with characteristics of seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. It has been described in five patients from four families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Transmission is autosomal recessive.
Amelogenesis imperfecta type 1G
MedGen UID:
419162
Concept ID:
C2931783
Disease or Syndrome
Amelogenesis imperfecta and gingival fibromatosis syndrome is an autosomal recessive condition characterized by mild gingival fibromatosis and dental anomalies, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies, and unerupted teeth (Martelli-Junior et al., 2008).
Intellectual disability, X-linked 90
MedGen UID:
477074
Concept ID:
C3275443
Mental or Behavioral Dysfunction
Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.
Urofacial syndrome 2
MedGen UID:
767434
Concept ID:
C3554520
Disease or Syndrome
Urofacial syndrome (UFS) is characterized by prenatal or infantile onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation and/or encopresis). Bladder voiding dysfunction increases the risk for urinary incontinence, megacystis, vesicoureteric reflux, hydroureteronephrosis, urosepsis, and progressive renal impairment. In rare instances, an individual who has (a) a molecularly confirmed diagnosis and/or (b) an affected relative meeting clinical diagnostic criteria manifests only the characteristic facial features or only the urinary bladder voiding dysfunction (not both). Nocturnal lagophthalmos (incomplete closing of the eyes during sleep) appears to be a common and significant finding.
Intellectual disability-severe speech delay-mild dysmorphism syndrome
MedGen UID:
862201
Concept ID:
C4013764
Mental or Behavioral Dysfunction
Intellectual developmental disorder with language impairment and with or without autistic features (IDDLA) is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013).
Tenorio syndrome
MedGen UID:
864147
Concept ID:
C4015710
Disease or Syndrome
Tenorio syndrome (TNORS) is characterized by overgrowth, macrocephaly, and impaired intellectual development. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (270150) (summary by Tenorio et al., 2014).
Blepharophimosis-impaired intellectual development syndrome
MedGen UID:
1779966
Concept ID:
C5443984
Disease or Syndrome
Blepharophimosis-impaired intellectual development syndrome (BIS) is a congenital disorder characterized by a distinct facial appearance with blepharophimosis and global development delay. Affected individuals have delayed motor skills, sometimes with inability to walk, and impaired intellectual development with poor or absent speech; some patients show behavioral abnormalities. There are recognizable facial features, including epicanthal folds, sparse eyebrows, broad nasal bridge, short nose with downturned tip, and open mouth with thin upper lip. Other more variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity (summary by Cappuccio et al., 2020).
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
MedGen UID:
1794194
Concept ID:
C5561984
Disease or Syndrome
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).
Combined oxidative phosphorylation deficiency 55
MedGen UID:
1806598
Concept ID:
C5676915
Disease or Syndrome
Combined oxidative phosphorylation deficiency-55 (COXPD55) is characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia phenotype has been described in 1 patient (summary by Olahova et al., 2021). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Intellectual developmental disorder, X-linked 112
MedGen UID:
1840225
Concept ID:
C5829589
Disease or Syndrome
X-linked intellectual disorder-112 (XLID112) is a neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Affected females have been reported, which appears to be related to skewed X-inactivation (summary by Hiatt et al., 2023).

Professional guidelines

PubMed

Nevéus T, Fonseca E, Franco I, Kawauchi A, Kovacevic L, Nieuwhof-Leppink A, Raes A, Tekgül S, Yang SS, Rittig S
J Pediatr Urol 2020 Feb;16(1):10-19. Epub 2020 Jan 30 doi: 10.1016/j.jpurol.2019.12.020. PMID: 32278657
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(1_suppl):S1-S42. doi: 10.1177/0194599818801757. PMID: 30798778

Recent clinical studies

Etiology

Katz EG, MacLachlan LS
Curr Urol Rep 2020 Jun 6;21(8):31. doi: 10.1007/s11934-020-00983-2. PMID: 32506170
Nevéus T, Fonseca E, Franco I, Kawauchi A, Kovacevic L, Nieuwhof-Leppink A, Raes A, Tekgül S, Yang SS, Rittig S
J Pediatr Urol 2020 Feb;16(1):10-19. Epub 2020 Jan 30 doi: 10.1016/j.jpurol.2019.12.020. PMID: 32278657
Thiedke CC
Am Fam Physician 2003 Apr 1;67(7):1499-506. PMID: 12722850
Nevéus T, Läckgren G, Tuvemo T, Hetta J, Hjälmås K, Stenberg A
Scand J Urol Nephrol Suppl 2000;(206):1-44. PMID: 11196246
Fritz GK, Armbrust J
Psychiatr Clin North Am 1982 Aug;5(2):283-96. PMID: 6750570

Diagnosis

Nevéus T, Fonseca E, Franco I, Kawauchi A, Kovacevic L, Nieuwhof-Leppink A, Raes A, Tekgül S, Yang SS, Rittig S
J Pediatr Urol 2020 Feb;16(1):10-19. Epub 2020 Jan 30 doi: 10.1016/j.jpurol.2019.12.020. PMID: 32278657
Chan IHY, Wong KKY
Hong Kong Med J 2019 Aug;25(4):305-11. Epub 2019 Aug 5 doi: 10.12809/hkmj197916. PMID: 31395789
Walker RA
Prim Care 2019 Jun;46(2):243-248. doi: 10.1016/j.pop.2019.02.005. PMID: 31030825
Haid B, Tekgül S
Eur Urol Focus 2017 Apr;3(2-3):198-206. Epub 2017 Sep 6 doi: 10.1016/j.euf.2017.08.010. PMID: 28888814
Weiss JP, Blaivas JG
J Urol 2000 Jan;163(1):5-12. PMID: 10604303

Therapy

Kushida CA, Shapiro CM, Roth T, Thorpy MJ, Corser BC, Ajayi AO, Rosenberg R, Roy A, Seiden D, Dubow J, Dauvilliers Y
Sleep 2022 Jun 13;45(6) doi: 10.1093/sleep/zsab200. PMID: 34358324Free PMC Article
Chan IHY, Wong KKY
Hong Kong Med J 2019 Aug;25(4):305-11. Epub 2019 Aug 5 doi: 10.12809/hkmj197916. PMID: 31395789
Kuwertz-Bröking E, von Gontard A
Pediatr Nephrol 2018 Jul;33(7):1145-1154. Epub 2017 Aug 21 doi: 10.1007/s00467-017-3778-1. PMID: 28828529
Butler RJ
Scand J Urol Nephrol 2001 Oct;35(5):364-9. doi: 10.1080/003655901753224413. PMID: 11771862
Trimble MR
J Clin Psychiatry 1990 Aug;51 Suppl:51-4; discussion 55-8. PMID: 2199435

Prognosis

Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Zivkovic V, Lazovic M, Vlajkovic M, Slavkovic A, Dimitrijevic L, Stankovic I, Vacic N
Eur J Phys Rehabil Med 2012 Sep;48(3):413-21. Epub 2012 Jun 5 PMID: 22669134
Robson WL, Leung AK
Clin Pediatr (Phila) 2000 Jul;39(7):379-85. doi: 10.1177/000992280003900701. PMID: 10914301
Fritz GK, Armbrust J
Psychiatr Clin North Am 1982 Aug;5(2):283-96. PMID: 6750570
Parks AG
Adv Surg 1971;5:1-50. PMID: 4942939

Clinical prediction guides

Rodríguez-Ruiz M, Mendez-Gallart R, García Mérida M, Somoza-Argibay I
An Pediatr (Engl Ed) 2021 Aug;95(2):108-115. Epub 2021 May 10 doi: 10.1016/j.anpede.2020.06.011. PMID: 34373073
Kiddoo D
BMJ Clin Evid 2011 Jan 31;2011 PMID: 21477399Free PMC Article
Kiddoo D
BMJ Clin Evid 2007 Oct 1;2007 PMID: 19450363Free PMC Article
Butler RJ, Gasson SL
Scand J Urol Nephrol 2005;39(5):349-57. doi: 10.1080/00365590500220321. PMID: 16257835
Djurhuus JC, Rittig S
Curr Opin Urol 2002 Jul;12(4):317-20. doi: 10.1097/00042307-200207000-00010. PMID: 12072653

Recent systematic reviews

Liu J, Zhang X, Zhao Y, Wang Y
PLoS One 2020;15(2):e0228533. Epub 2020 Feb 13 doi: 10.1371/journal.pone.0228533. PMID: 32053609Free PMC Article
Driehuis F, Hoogeboom TJ, Nijhuis-van der Sanden MWG, de Bie RA, Staal JB
PLoS One 2019;14(6):e0218940. Epub 2019 Jun 25 doi: 10.1371/journal.pone.0218940. PMID: 31237917Free PMC Article
Parnell Prevost C, Gleberzon B, Carleo B, Anderson K, Cark M, Pohlman KA
BMC Complement Altern Med 2019 Mar 13;19(1):60. doi: 10.1186/s12906-019-2447-2. PMID: 30866915Free PMC Article
Kiddoo D
BMJ Clin Evid 2011 Jan 31;2011 PMID: 21477399Free PMC Article
Kiddoo D
BMJ Clin Evid 2007 Oct 1;2007 PMID: 19450363Free PMC Article

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