Low anorectal malformation

Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.



Input patient's signs and symptoms


Narrow down the case reports



Total: 12 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(50.2%)
14743324
Exstrophy variants: should they be considered malformation complexes separate from classic exstrophy?
Gupta DK, Charles AR, Srinivas M.
Eur J Pediatr Surg. 2003;13(6):377-82.
Bifid scrotum Absent radius
Bladder Exstrophy Females Homo sapiens Infant, Newborn Male Retrospective Studies Urinary Bladder Fistula
2
(4.0%)
30805473
Low complete transverse vaginal septum, vesico-ureteric reflux and low anorectal malformation: Case report and review of literature.
Tiwari C, Shah H, Singhavi S.
Int J Pediatr Adolesc Med. 2016;3(2):81-84.
Ectopic anus
2
(4.0%)
24231113
Neonatal Sigmoid Colon Perforation: A Rare Occurrence in Low Anorectal Malformation and Review of the Literature.
Parelkar SV, Kapadnis SP, Sanghvi BV, Joshi PB, Mundada DD, Oak SN.
Pediatr Neonatol. 2016;57(3):232-5.
Abdominal distention
Anorectal Malformations Homo sapiens Infant, Newborn Intestinal Perforation Male
2
(4.0%)
21496547
Neonatal lingual and gastrointestinal mucormycosis in a case of low anorectal malformation-a rare presentation.
Gupta R, Parelkar SV, Oak S, Sanghvi B, Prakash A.
J Pediatr Surg. 2011;46(4):745-748.
Enterocolitis
Anorectal Malformations Antifungal Agents Anus, Imperforate Biopsy Differential Diagnosis Follow-Up Studies Glossitis Homo sapiens Infant, Newborn Jejunal Diseases Jejunum Laparotomy Male Mucormycosis Oral Surgical Procedures Tongue
2
(4.0%)
16914360
Burns caused by fan heater used for managing post-operative hypothermia in a premature neonate.
Wankhede AG, Dongre AP, Sariya DR.
J Forensic Leg Med. 2007;14(5):289-92.
Hypothermia
Anus, Imperforate Equipment Failure Analysis Females Heating Homo sapiens Infant, Newborn Postoperative Complications Preterm Infant Respiratory Distress Syndrome, Newborn
2
(4.0%)
16177923
Low anorectal malformation associated with 'ano-urethro-cutaneous' fistula.
Kumar V, Rao PL, Vepakomma D.
Pediatr Surg Int. 2005;21(10):829-30.
Plethora
Anus, Imperforate Cutaneous Fistula Homo sapiens Infant, Newborn Male Rectal Fistula Scrotum Urethral Diseases
2
(4.0%)
15868499
Anorectal atresia treated with non-continent pull through and artificial bowel sphincter: a case report.
Bracale U, Nastro P, Beral DL, Romano G, Renda A.
Tech Coloproctol. 2005;9(1):45-8.
Rectal atresia
Adult Anus, Imperforate Artificial Organs Fecal Incontinence Homo sapiens Male
2
(4.0%)
10770243
Incontinence and constipation after low anorectal malformations in a boy.
Laboure S, Besson R, Lamblin MD, Debeugny P.
Eur J Pediatr Surg. 2000;10(1):23-9.
Vascular dilatation
Constipation Fecal Incontinence Homo sapiens Infant, Newborn Male Manometry Postoperative Complications
2
(4.0%)
8887112
Congenital funnel anus.
Rintala RJ, Jarvinen HJ.
J Pediatr Surg. 1996;31(9):1308-10.
Constipation
Adult Constipation Females Homo sapiens Infant Infant, Newborn Male Megacolon
2
(4.0%)
8193506
A psychosocial follow-up of ten adolescents with low anorectal malformation.
Diseth TH, Emblem R, Solbraa IB, Vandvik IH.
Acta Paediatr. 1994;83(2):216-21.
Constipation
Anus, Imperforate Child Congenital Abnormality Females Follow-Up Studies Homo sapiens Male Parent-Child Relationship Psychology, Adolescent Rectum Social Adjustment
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0000048 Bifid scrotum 1
HP:0001537 Umbilical hernia 1
HP:0002045 Hypothermia 1
HP:0003974 Absent radius 1
HP:0025023 Rectal atresia 1
HP:0031369 Colon perforation 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
MYH14 myosin heavy chain 14 79784