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Rectal prolapse

MedGen UID:
11151
Concept ID:
C0034888
Disease or Syndrome
Synonyms: Prolapse, Rectal; Prolapses, Rectal; Rectal Prolapse; Rectal Prolapses
SNOMED CT: RP - Rectal prolapse (57773001); Rectal prolapse (57773001); Procidentia of rectum (57773001); Rectal mucosa prolapse (57773001)
 
HPO: HP:0002035
Monarch Initiative: MONDO:0004754
OMIM®: 176780

Definition

Protrusion of the rectal mucous membrane through the anus. [from HPO]

Conditions with this feature

Cystic fibrosis
MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.
Peutz-Jeghers syndrome
MedGen UID:
18404
Concept ID:
C0031269
Disease or Syndrome
Peutz-Jeghers syndrome (PJS) is characterized by the association of gastrointestinal (GI) polyposis, mucocutaneous pigmentation, and cancer predisposition. PJS-type hamartomatous polyps are most common in the small intestine (in order of prevalence: jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. GI polyps can result in chronic bleeding, anemia, and recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Recognition of the distinctive skin manifestations is important especially in individuals who have PJS as the result of a de novo pathogenic variant as these skin findings often predate GI signs and symptoms. Individuals with PJS are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated.
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.
Coffin-Lowry syndrome
MedGen UID:
75556
Concept ID:
C0265252
Disease or Syndrome
Coffin-Lowry syndrome (CLS) is usually characterized by severe-to-profound intellectual disability in males; less severely impaired individuals have been reported. Neuropsychiatric concerns can include behavioral problems, loss of strength, progressive spasticity or paraplegia, sleep apnea, or stroke. Stimulus-induced drop attacks (SIDAs) in which unexpected tactile or auditory stimuli or excitement triggers a brief collapse but no loss of consciousness are present in approximately 20% of affected individuals. Typically SIDAs begin between mid-childhood and the teens. Characteristic facial features may be more apparent with age. Upper-extremity differences may be subtle and include short, soft, fleshy hands with tapered fingers as well as fleshy forearms. Progressive kyphoscoliosis is one of the most difficult aspects of long-term care. Affected females tend to have intellectual disability in the mild-to-moderate range and may also have the typical facial, hand, and skeletal findings noted in males.
Dyggve-Melchior-Clausen syndrome
MedGen UID:
120527
Concept ID:
C0265286
Disease or Syndrome
Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests (summary by El Ghouzzi et al., 2003).
Leprechaunism syndrome
MedGen UID:
82708
Concept ID:
C0265344
Disease or Syndrome
INSR-related severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype Donohue syndrome (DS) (also known as leprechaunism) to the milder phenotype Rabson-Mendenhall syndrome (RMS). DS at the severe end of the spectrum is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction and postnatal growth failure, hypotonia and developmental delay, characteristic facies, and organomegaly involving heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS at the milder end of the spectrum is characterized by severe insulin resistance that, although not as severe as that of DS, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and – in the second decade – microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of DS. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer.
Juvenile polyposis syndrome
MedGen UID:
87518
Concept ID:
C0345893
Neoplastic Process
Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers ranges from 11% to 86%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) is present in most individuals with an SMAD4 pathogenic variant.
Blue rubber bleb nevus
MedGen UID:
83401
Concept ID:
C0346072
Congenital Abnormality
A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
Microphthalmia, syndromic 1
MedGen UID:
162898
Concept ID:
C0796016
Congenital Abnormality
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
MedGen UID:
442566
Concept ID:
C2750804
Disease or Syndrome
LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Other manifestations can include pyloric stenosis, diaphragmatic hernia, rectal prolapse, gastrointestinal elongation/tortuosity, cardiovascular abnormality, pulmonary hypertension, hypotonia and frequent pulmonary infections. Bladder diverticula and hydronephrosis are common. Early demise has been associated with pulmonary emphysema.
Pelvic organ prolapse, susceptibility to
MedGen UID:
442887
Concept ID:
C2752090
Finding
Female pelvic floor disorders, including pelvic organ prolapse (POP), urinary incontinence, and stress urinary incontinence, affect over one-third of adult women (Bump and Norton, 1998). These disorders are characterized by weakening of the tissues supporting and anchoring the pelvic organs, which can affect both structure and function of the vagina, uterus, bladder, anus, and intestines.
Hennekam lymphangiectasia-lymphedema syndrome 1
MedGen UID:
860487
Concept ID:
C4012050
Disease or Syndrome
Hennekam lymphangiectasia-lymphedema syndrome (HKLLS1) is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome See also HKLLS2 (616006), caused by mutation in the FAT4 gene (612411) on chromosome 4q28, and HKLLS3 (618154), caused by mutation in the ADAMTS3 gene (605011) on chromosome 4q13.
Short stature-brachydactyly-obesity-global developmental delay syndrome
MedGen UID:
934656
Concept ID:
C4310689
Disease or Syndrome
A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.
Visceral myopathy 2
MedGen UID:
1783630
Concept ID:
C5543466
Disease or Syndrome
Visceral myopathy-2 (VSCM2) is characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Some patients exhibit predominantly esophageal symptoms, with hiatal hernia and severe reflux resulting in esophagitis and stricture, whereas others experience chronic intestinal pseudoobstruction. Bladder involvement resulting in megacystis and megaureter has also been observed and may be evident at birth (Dong et al., 2019; Gilbert et al. (2020)).
Restrictive dermopathy 2
MedGen UID:
1801155
Concept ID:
C5676942
Disease or Syndrome
Restrictive dermopathy is a rare genodermatosis characterized mainly by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures, and an early neonatal lethal course. Liveborn children usually die within the first week of life (summary by Navarro et al., 2004). For a discussion of genetic heterogeneity of restrictive dermopathy, see RSDM1 (275210).
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
MedGen UID:
1846538
Concept ID:
CN031130
Disease or Syndrome
STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features. This disorder typically manifests in the newborn period with a rash (often diagnosed as eosinophilic pustulosis) that subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. Nonimmune features may include retained primary teeth, scoliosis, bone fractures following minimal trauma, joint hyperextensibility, and characteristic facial appearance, which typically emerges in adolescence. Vascular abnormalities have been described and include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease, esophageal dysmotility, and spontaneous intestinal perforations (some of which are associated with diverticuli). Fungal infections of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, with most individuals now living into or past the sixth decade. Most deaths are associated with gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency.

Professional guidelines

PubMed

McNevin MS
Surg Clin North Am 2024 Jun;104(3):557-564. Epub 2024 Jan 29 doi: 10.1016/j.suc.2023.12.002. PMID: 38677820
Cohee MW, Hurff A, Gazewood JD
Am Fam Physician 2020 Jan 1;101(1):24-33. PMID: 31894930
Bordeianou L, Hicks CW, Kaiser AM, Alavi K, Sudan R, Wise PE
J Gastrointest Surg 2014 May;18(5):1059-69. Epub 2013 Dec 19 doi: 10.1007/s11605-013-2427-7. PMID: 24352613

Recent clinical studies

Therapy

Emile SH, Khan SM, Garoufalia Z, Silva-Alvarenga E, Gefen R, Horesh N, Freund MR, Wexner SD
Tech Coloproctol 2023 Oct;27(10):787-797. Epub 2023 May 8 doi: 10.1007/s10151-023-02813-2. PMID: 37150800
Bugge C, Adams EJ, Gopinath D, Stewart F, Dembinsky M, Sobiesuo P, Kearney R
Cochrane Database Syst Rev 2020 Nov 18;11(11):CD004010. doi: 10.1002/14651858.CD004010.pub4. PMID: 33207004Free PMC Article
Van Geluwe B, Wolthuis A, D'Hoore A
Best Pract Res Clin Gastroenterol 2014 Feb;28(1):69-80. Epub 2013 Dec 4 doi: 10.1016/j.bpg.2013.11.009. PMID: 24485256
Maher C, Feiner B, Baessler K, Schmid C
Cochrane Database Syst Rev 2013 Apr 30;(4):CD004014. doi: 10.1002/14651858.CD004014.pub5. PMID: 23633316
Gourgiotis S, Baratsis S
Int J Colorectal Dis 2007 Mar;22(3):231-43. Epub 2006 Oct 5 doi: 10.1007/s00384-006-0198-2. PMID: 17021747

Prognosis

Ley D, Turck D
Best Pract Res Clin Gastroenterol 2022 Feb-Mar;56-57:101788. Epub 2022 Feb 24 doi: 10.1016/j.bpg.2022.101788. PMID: 35331400
Podzemny V, Pescatori LC, Pescatori M
World J Gastroenterol 2015 Jan 28;21(4):1053-60. doi: 10.3748/wjg.v21.i4.1053. PMID: 25632177Free PMC Article
Nunoo-Mensah JW, Efron JE, Young-Fadok TM
Surg Endosc 2007 Feb;21(2):325-6. Epub 2006 Dec 27 doi: 10.1007/s00464-006-0136-y. PMID: 17192813
Harrison BP, Cespedes RD
Emerg Med Clin North Am 2001 Aug;19(3):781-97. doi: 10.1016/s0733-8627(05)70215-7. PMID: 11554287
Parks AG
Adv Surg 1971;5:1-50. PMID: 4942939

Clinical prediction guides

Bugge C, Adams EJ, Gopinath D, Stewart F, Dembinsky M, Sobiesuo P, Kearney R
Cochrane Database Syst Rev 2020 Nov 18;11(11):CD004010. doi: 10.1002/14651858.CD004010.pub4. PMID: 33207004Free PMC Article
Fitzgerald J, Richter LA
Curr Urol Rep 2020 May 15;21(7):26. doi: 10.1007/s11934-020-00981-4. PMID: 32415411
Cariou de Vergie L, Venara A, Duchalais E, Frampas E, Lehur PA
J Visc Surg 2017 Feb;154(1):21-28. Epub 2016 Nov 16 doi: 10.1016/j.jviscsurg.2016.10.004. PMID: 27865742
Faucheron JL, Trilling B, Girard E, Sage PY, Barbois S, Reche F
World J Gastroenterol 2015 Apr 28;21(16):5049-55. doi: 10.3748/wjg.v21.i16.5049. PMID: 25945021Free PMC Article
Podzemny V, Pescatori LC, Pescatori M
World J Gastroenterol 2015 Jan 28;21(4):1053-60. doi: 10.3748/wjg.v21.i4.1053. PMID: 25632177Free PMC Article

Recent systematic reviews

Fagan G, Bathgate A, Dalzell A, Collinson R, Lin A
Colorectal Dis 2023 Jun;25(6):1116-1127. Epub 2023 Mar 18 doi: 10.1111/codi.16534. PMID: 36847704
Bugge C, Adams EJ, Gopinath D, Stewart F, Dembinsky M, Sobiesuo P, Kearney R
Cochrane Database Syst Rev 2020 Nov 18;11(11):CD004010. doi: 10.1002/14651858.CD004010.pub4. PMID: 33207004Free PMC Article
Fan K, Cao AM, Barto W, De Lacavalerie P
Colorectal Dis 2020 Dec;22(12):1850-1861. Epub 2020 Sep 21 doi: 10.1111/codi.15338. PMID: 32865320
Forootan M, Darvishi M
Medicine (Baltimore) 2018 May;97(18):e0565. doi: 10.1097/MD.0000000000010565. PMID: 29718850Free PMC Article
Maher C, Feiner B, Baessler K, Schmid C
Cochrane Database Syst Rev 2013 Apr 30;(4):CD004014. doi: 10.1002/14651858.CD004014.pub5. PMID: 23633316

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