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Acrorenal syndrome

MedGen UID:
501193
Concept ID:
C3495490
Disease or Syndrome
Synonym: Curran syndrome
SNOMED CT: Acrorenal syndrome (720458005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0007059
OMIM®: 102520
Orphanet: ORPHA971

Definition

Acrorenal syndrome comprises a wide spectrum of congenital malformation disorders with characteristics of the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (for example unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract, abdominal well defects, intestinal atresia and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. [from SNOMEDCT_US]

Clinical features

From HPO
Abnormal renal morphology
MedGen UID:
1633142
Concept ID:
C4551596
Anatomical Abnormality
Any structural anomaly of the kidney.
Finger aplasia
MedGen UID:
1841564
Concept ID:
C5779506
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcrorenal syndrome

Recent clinical studies

Etiology

Ganesan N, Gurusamy U, Venkataswamy C, Sankar K
Indian J Pediatr 2023 Feb;90(2):139-145. Epub 2022 Aug 18 doi: 10.1007/s12098-022-04305-x. PMID: 35980547
Schuffner A, Centa L, Reggiani C, Costa S
Arch Androl 2006 May-Jun;52(3):145-8. doi: 10.1080/01485010500379863. PMID: 16574593
Kroes HY, Olney RS, Rosano A, Liu Y, Castilla EE, Cocchi G, De Vigan C, Martínez-Frías ML, Mastroiacovo P, Merlob P, Mutchinick O, Ritvanen A, Stoll C, van Essen AJ, Cobben JM, Cornel MC
Am J Med Genet A 2004 Aug 30;129A(2):149-55. doi: 10.1002/ajmg.a.30176. PMID: 15316969

Diagnosis

Ganesan N, Gurusamy U, Venkataswamy C, Sankar K
Indian J Pediatr 2023 Feb;90(2):139-145. Epub 2022 Aug 18 doi: 10.1007/s12098-022-04305-x. PMID: 35980547
Esmaeili Jadidi M, Oliaei F
Iran J Kidney Dis 2018 Jul;12(4):247-249. PMID: 30087221
Kroes HY, Olney RS, Rosano A, Liu Y, Castilla EE, Cocchi G, De Vigan C, Martínez-Frías ML, Mastroiacovo P, Merlob P, Mutchinick O, Ritvanen A, Stoll C, van Essen AJ, Cobben JM, Cornel MC
Am J Med Genet A 2004 Aug 30;129A(2):149-55. doi: 10.1002/ajmg.a.30176. PMID: 15316969
Zeier M, Ritz E
Nephrol Dial Transplant 1999 Nov;14(11):2763-5. doi: 10.1093/ndt/14.11.2763. PMID: 10534529
Zeier M, Tariverdian G, Waldherr R, Andrassy K, Ritz E
Am J Kidney Dis 1989 Sep;14(3):221-4. doi: 10.1016/s0272-6386(89)80075-7. PMID: 2773925

Therapy

Schuffner A, Centa L, Reggiani C, Costa S
Arch Androl 2006 May-Jun;52(3):145-8. doi: 10.1080/01485010500379863. PMID: 16574593

Prognosis

Ganesan N, Gurusamy U, Venkataswamy C, Sankar K
Indian J Pediatr 2023 Feb;90(2):139-145. Epub 2022 Aug 18 doi: 10.1007/s12098-022-04305-x. PMID: 35980547
Brady A, Aglan A
BMJ Case Rep 2021 Nov 2;14(11) doi: 10.1136/bcr-2021-244117. PMID: 34728503Free PMC Article
Madhu R, Beaman GM, Chandler KE, O'Sullivan J, Urquhart JE, Khan N, Martindale E, Briggs TA, Clayton-Smith J, Higgs J, Batra G, Kerr B, Woolf AS, Newman WG
Eur J Med Genet 2020 Sep;63(9):103974. Epub 2020 Jun 12 doi: 10.1016/j.ejmg.2020.103974. PMID: 32534991Free PMC Article

Clinical prediction guides

Ganesan N, Gurusamy U, Venkataswamy C, Sankar K
Indian J Pediatr 2023 Feb;90(2):139-145. Epub 2022 Aug 18 doi: 10.1007/s12098-022-04305-x. PMID: 35980547
Madhu R, Beaman GM, Chandler KE, O'Sullivan J, Urquhart JE, Khan N, Martindale E, Briggs TA, Clayton-Smith J, Higgs J, Batra G, Kerr B, Woolf AS, Newman WG
Eur J Med Genet 2020 Sep;63(9):103974. Epub 2020 Jun 12 doi: 10.1016/j.ejmg.2020.103974. PMID: 32534991Free PMC Article
Houlston R, MacDermot K
Clin Dysmorphol 1992 Jan;1(1):23-8. PMID: 1342854

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