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Renal malrotation

MedGen UID:
Concept ID:
Congenital Abnormality
Synonyms: Abnormal rotation of the kidneys; Kidney malrotation; Malrotation of kidney; Malrotation of the kidney
SNOMED CT: Malrotation of kidney (49008000)
HPO: HP:0004712


An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. [from HPO]

Conditions with this feature

Radial aplasia-thrombocytopenia syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.
Duane-radial ray syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
SALL4-related disorders include Duane-radial ray syndrome (DRRS, Okihiro syndrome), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS) – three phenotypes previously thought to be distinct entities. DRRS is characterized by uni- or bilateral Duane anomaly and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs, hypoplasia or aplasia of the radii, shortening and radial deviation of the forearms, triphalangeal thumbs, and duplication of the thumb (preaxial polydactyly). AROS is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesicoureteral reflux, bladder diverticula), ocular coloboma, and Duane anomaly. Rarely, pathogenic variants in SALL4 may cause clinically typical HOS (i.e., radial ray malformations and cardiac malformations without additional features).
Matthew-Wood syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Syndromic microphthalmia-9, also referred to as pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect, is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The phenotype is variable, ranging from isolated clinical anophthalmia or microphthalmia to complex presentations involving the cardiac, pulmonary, diaphragmatic, and renal systems. At its most severe, infants are born without pulmonary structures and die soon after birth (Marcadier et al., 2015).
Renal coloboma syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
PAX2-related disorder is an autosomal dominant disorder associated with renal and eye abnormalities. The disorder was originally referred to as renal coloboma syndrome and characterized by renal hypodysplasia and abnormalities of the optic nerve; with improved access to molecular testing, a wider range of phenotypes has been recognized in association with pathogenic variants in PAX2. Abnormal renal structure or function is noted in 92% of affected individuals and ophthalmologic abnormalities in 77% of affected individuals. Renal abnormalities can be clinically silent in rare individuals. In most individuals, clinically significant renal insufficiency / renal failure is reported. End-stage renal disease requiring renal transplant is not uncommon. Uric acid nephrolithiasis has been reported. Ophthalmologic abnormalities are typically described as optic nerve coloboma or dysplasia. Iris colobomas have not been reported in any individual with PAX2–related disorder. Ophthalmologic abnormalities may significantly impair vision in some individuals, while others have subtle changes only noted after detailed ophthalmologic examination. Additional clinical findings include high-frequency sensorineural hearing loss, soft skin, and ligamentous laxity. PAX2 pathogenic variants have been identified in multiple sporadic and familial cases of nonsyndromic renal disease including renal hypodysplasia and focal segmental glomerulosclerosis.
Intellectual disability, autosomal dominant 27
MedGen UID:
Concept ID:
Disease or Syndrome
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) is characterized by mildly impaired intellectual development and microcephaly. Patients may also have ocular malformations, ocular apraxia, or hypogonadotropic hypogonadism. The disorder shows a unique DNA methylation signature (summary by Al-Jawahiri et al., 2022).
Tall stature-intellectual disability-renal anomalies syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).
Branchiootorenal syndrome 1
MedGen UID:
Concept ID:
Disease or Syndrome
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.

Professional guidelines


Kovacic K, Li BUK
Headache 2021 Feb;61(2):231-243. Epub 2021 Feb 23 doi: 10.1111/head.14073. PMID: 33619730
Blask AR, Fagen KE, Rubio EI, Badillo AT, Bulas DI
Pediatr Radiol 2021 Jul;51(8):1332-1338. Epub 2021 Feb 20 doi: 10.1007/s00247-021-04969-1. PMID: 33608743
Singhi SC, Shah R, Bansal A, Jayashree M
Indian J Pediatr 2013 Apr;80(4):318-25. Epub 2013 Jan 23 doi: 10.1007/s12098-012-0959-6. PMID: 23340985

Recent clinical studies


García Rojo E, Teoh JY, Castellani D, Brime Menéndez R, Tanidir Y, Benedetto Galosi A, Bhatia TP, Soebhali B, Sridharan V, Corrales M, Vaddi CM, Shrestha A, Singh A, Lakmichi MA, Ragoori D, Sepulveda F, Hamri SB, Ganpule AP, Emiliani E, Somani B, Traxer O, Gauhar V
Urology 2022 Jan;159:41-47. Epub 2021 Oct 29 doi: 10.1016/j.urology.2021.10.003. PMID: 34715241
Alicelebić S, Kapić D, Mornjaković Z
Bosn J Basic Med Sci 2008 May;8(2):126-30. doi: 10.17305/bjbms.2008.2965. PMID: 18498261Free PMC Article
Lau KY, Kan WK, Hou SM, Roebuck DJ, Fung WT
Ann Acad Med Singap 2002 Jan;31(1):107-10. PMID: 11885484
Gallucci M, Vincenzoni A, Schettini M, Fortunato P, Cassanelli A, Zaccara A
Urol Int 2001;66(2):61-5. doi: 10.1159/000056572. PMID: 11223745


Houat AP, Guimarães CTS, Takahashi MS, Rodi GP, Gasparetto TPD, Blasbalg R, Velloni FG
Radiographics 2021 Mar-Apr;41(2):462-486. Epub 2021 Jan 29 doi: 10.1148/rg.2021200078. PMID: 33513074
Cost NG, Ludwig AT, Wilcox DT, Rakheja D, Steinberg SJ, Baker LA
J Pediatr Surg 2009 Feb;44(2):451-4. doi: 10.1016/j.jpedsurg.2008.10.003. PMID: 19231556
Verscuren RR, Mortelmans L
Clin Nucl Med 2007 Apr;32(4):323-4. doi: 10.1097/01.rlu.0000257301.72667.35. PMID: 17413588
Gettman MT, Lotan Y, Cadeddu J
JSLS 2003 Jul-Sep;7(3):257-60. PMID: 14558716Free PMC Article
Lau KY, Kan WK, Hou SM, Roebuck DJ, Fung WT
Ann Acad Med Singap 2002 Jan;31(1):107-10. PMID: 11885484


Rana AM, Bhojwani JP
J Endourol 2009 Apr;23(4):609-14. doi: 10.1089/end.2007.0430. PMID: 19367743
Lau KY, Kan WK, Hou SM, Roebuck DJ, Fung WT
Ann Acad Med Singap 2002 Jan;31(1):107-10. PMID: 11885484


Gettman MT, Lotan Y, Cadeddu J
JSLS 2003 Jul-Sep;7(3):257-60. PMID: 14558716Free PMC Article
Lau KY, Kan WK, Hou SM, Roebuck DJ, Fung WT
Ann Acad Med Singap 2002 Jan;31(1):107-10. PMID: 11885484

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