U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Potter sequence

MedGen UID:
472617
•Concept ID:
C0178426
•
Disease or Syndrome
Synonyms: Oligohydramnios sequence; Potter syndrome
SNOMED CT: Potter's anomaly of the kidney (41962002); Oligohydramnios sequence (41962002); Potter syndrome (41962002)
 
Monarch Initiative: MONDO:0001558

Definition

A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPotter sequence

Professional guidelines

PubMed

Prenatal ultrasound diagnosis of duplication gallbladder: a multicenter study.
Di Meglio L, Toscano P, Saccone G, Di Meglio L, Mazzarelli LL, Zullo F, Raffone A, Travaglino A, Locci M, Di Meglio A
Arch Gynecol Obstet 2020 Aug;302(2):377-382. Epub 2020 Jun 12 doi: 10.1007/s00404-020-05641-z. PMID: 32533284
Genetics of cystic kidney diseases. Criteria for classification and genetic counselling.
Zerres K
Pediatr Nephrol 1987 Jul;1(3):397-404. doi: 10.1007/BF00849243. PMID: 3153307

Recent clinical studies

Etiology

Prenatal ultrasound diagnosis of duplication gallbladder: a multicenter study.
Di Meglio L, Toscano P, Saccone G, Di Meglio L, Mazzarelli LL, Zullo F, Raffone A, Travaglino A, Locci M, Di Meglio A
Arch Gynecol Obstet 2020 Aug;302(2):377-382. Epub 2020 Jun 12 doi: 10.1007/s00404-020-05641-z. PMID: 32533284
Survival of a very low-birthweight infant with Potter sequence on long-term hemodialysis.
Miyahara J, Yamamoto M, Motoshige K, Fujita N, Ohki S
Pediatr Int 2016 Jul;58(7):604-6. Epub 2016 May 23 doi: 10.1111/ped.12848. PMID: 27216547
Fetal renin-angiotensin-system blockade syndrome: renal lesions.
Plazanet C, Arrondel C, Chavant F, Gubler MC
Pediatr Nephrol 2014 Jul;29(7):1221-30. Epub 2014 Jan 30 doi: 10.1007/s00467-013-2749-4. PMID: 24477978
Genetics of cystic kidney diseases. Criteria for classification and genetic counselling.
Zerres K
Pediatr Nephrol 1987 Jul;1(3):397-404. doi: 10.1007/BF00849243. PMID: 3153307
The Potter sequence: a clinical analysis of 80 cases.
Curry CJ, Jensen K, Holland J, Miller L, Hall BD
Am J Med Genet 1984 Dec;19(4):679-702. doi: 10.1002/ajmg.1320190408. PMID: 6393764

Diagnosis

Prenatal ultrasound diagnosis of duplication gallbladder: a multicenter study.
Di Meglio L, Toscano P, Saccone G, Di Meglio L, Mazzarelli LL, Zullo F, Raffone A, Travaglino A, Locci M, Di Meglio A
Arch Gynecol Obstet 2020 Aug;302(2):377-382. Epub 2020 Jun 12 doi: 10.1007/s00404-020-05641-z. PMID: 32533284
Renal tubular dysgenesis.
Gubler MC
Pediatr Nephrol 2014 Jan;29(1):51-9. Epub 2013 May 1 doi: 10.1007/s00467-013-2480-1. PMID: 23636579
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC
Hum Mutat 2012 Feb;33(2):316-26. Epub 2011 Dec 22 doi: 10.1002/humu.21661. PMID: 22095942
Renin-angiotensin system in kidney development: renal tubular dysgenesis.
Gubler MC, Antignac C
Kidney Int 2010 Mar;77(5):400-6. Epub 2009 Nov 18 doi: 10.1038/ki.2009.423. PMID: 19924102
The antenatal diagnosis of Potter syndrome (Potter sequence). A lethal and not-so-rare malformation.
Dicker D, Samuel N, Feldberg D, Goldman JA
Eur J Obstet Gynecol Reprod Biol 1984 Sep;18(1-2):17-24. doi: 10.1016/0028-2243(84)90028-5. PMID: 6389211

Therapy

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.
Richer J, Daoud H, Geier P, Jarinova O, Carson N, Feberova J, Ben Fadel N, Unrau J, Bareke E, Khatchadourian K, Bulman DE, Majewski J, Boycott KM, Dyment DA
Am J Med Genet A 2015 Jul;167(7):1654-8. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.37067. PMID: 25899979
Fetal renin-angiotensin-system blockade syndrome: renal lesions.
Plazanet C, Arrondel C, Chavant F, Gubler MC
Pediatr Nephrol 2014 Jul;29(7):1221-30. Epub 2014 Jan 30 doi: 10.1007/s00467-013-2749-4. PMID: 24477978
Renal tubular dysgenesis with atypical histology and in-utero exposure to naproxen sodium.
Koklu E, Gurgoze M, Akgun H, Ozturk MA, Poyrazoglu MH
Ann Trop Paediatr 2006 Sep;26(3):241-5. doi: 10.1179/146532806X120345. PMID: 16925962

Prognosis

Expanding the clinical spectrum of autosomal-recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature.
Vincent KM, Alrajhi A, Lazier J, Bonin B, Lawrence S, Weiler G, Armour CM
Mol Genet Genomic Med 2022 May;10(5):e1920. Epub 2022 Mar 14 doi: 10.1002/mgg3.1920. PMID: 35286024Free PMC Article
Thanatophoric Skeletal Dysplasia: A Case Report.
Anjum F, Daha SK, Shah G
JNMA J Nepal Med Assoc 2020 Mar;58(223):185-187. doi: 10.31729/jnma.4488. PMID: 32347827Free PMC Article
Rare manifestations of Potter Sequence: A Case Report.
Gautam U, Kafley R, Chikanbanjar V, Shakya A, Basnet R, Manandhar SR
JNMA J Nepal Med Assoc 2020 Mar;58(223):178-180. doi: 10.31729/jnma.4683. PMID: 32347825Free PMC Article
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC
Hum Mutat 2012 Feb;33(2):316-26. Epub 2011 Dec 22 doi: 10.1002/humu.21661. PMID: 22095942
The antenatal diagnosis of Potter syndrome (Potter sequence). A lethal and not-so-rare malformation.
Dicker D, Samuel N, Feldberg D, Goldman JA
Eur J Obstet Gynecol Reprod Biol 1984 Sep;18(1-2):17-24. doi: 10.1016/0028-2243(84)90028-5. PMID: 6389211

Clinical prediction guides

Fetal renin-angiotensin-system blockade syndrome: renal lesions.
Plazanet C, Arrondel C, Chavant F, Gubler MC
Pediatr Nephrol 2014 Jul;29(7):1221-30. Epub 2014 Jan 30 doi: 10.1007/s00467-013-2749-4. PMID: 24477978
Renal tubular dysgenesis.
Gubler MC
Pediatr Nephrol 2014 Jan;29(1):51-9. Epub 2013 May 1 doi: 10.1007/s00467-013-2480-1. PMID: 23636579
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC
Hum Mutat 2012 Feb;33(2):316-26. Epub 2011 Dec 22 doi: 10.1002/humu.21661. PMID: 22095942
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.
Lacoste M, Cai Y, Guicharnaud L, Mounier F, Dumez Y, Bouvier R, Dijoud F, Gonzales M, Chatten J, Delezoide AL, Daniel L, Joubert M, Laurent N, Aziza J, Sellami T, Amar HB, Jarnet C, Frances AM, Daïkha-Dahmane F, Coulomb A, Neuhaus TJ, Foliguet B, Chenal P, Marcorelles P, Gasc JM, Corvol P, Gubler MC
J Am Soc Nephrol 2006 Aug;17(8):2253-63. Epub 2006 Jun 21 doi: 10.1681/ASN.2005121303. PMID: 16790508
Further arguments for non-fortuitous association of Potter sequence with XYY males.
Rudnik-Schöneborn S, Schüler HM, Schwanitz G, Hansmann M, Zerres K
Ann Genet 1996;39(1):43-6. PMID: 9297443

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...