Acrorenal syndrome

A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.



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Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(36.8%)		 2773925
 Acrorenal syndrome in an adult--presentation with proteinuria, hypertension, and glomerular lesions.
Zeier M, Tariverdian G, Waldherr R, Andrassy K, Ritz E.
Am J Kidney Dis. 1989;14(3):221-4.
Proteinuria Pectus excavatum Split hand
Adult Glomerulonephritis Homo sapiens Kidney Limb Deformities, Congenital Male Proteinuria
2
(34.6%)		 6714259
 A new variant of the acrorenal syndrome associated with bilateral oligomeganephronic hypoplasia.
Miltenyi M, Balogh L, Schmidt K, Detre Z, Hernady T, Czeizel A.
Eur J Pediatr. 1984;142(1):40-3.
Split hand
Adult Congenital Foot Deformity Congenital Hand Deformities Growth Disorders Homo sapiens Infant, Newborn Kidney Kidney Failure, Chronic Male Nephrons Syndrome
3
(4.0%)		 16574593
 Acral and renal malformations following ICSI.
Schuffner A, Centa L, Reggiani C, Costa S.
Arch Androl. 2006;52(3):145-8.
Infertility
Adult Females Homo sapiens Infant Kidney Limb Deformities, Congenital Male Sperm Injections, Intracytoplasmic
3
(4.0%)		 8971900
 Acrorenal syndrome associated with visual defect.
al Salloum AA, al Rasheed SA, al Husain MA, al Mugeiren MM, al Rikabi AS, al Sohaibani MO.
Pediatr Nephrol. 1996;10(6):759-60.
Retinopathy
Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Homo sapiens Kidney Kidney Failure, Chronic Male Syndrome Vision Disorders
3
(4.0%)		 3239389
 Rokitansky-Kuster-Hauser syndrome with ectrodactyly.
Massafra C, Bartolozzi M, Bartolozzi P, Scillone L.
Acta Obstet Gynecol Scand. 1988;67(6):557-60.
Ectopic kidney
Congenital Foot Deformity Congenital Hand Deformities Diagnostic Errors Females Homo sapiens Kidney Syndrome Vagina
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0001171 Split hand Very frequent (99-80%)
HP:0008678 Renal hypoplasia/aplasia Very frequent (99-80%)
HP:0012210 Abnormal renal morphology Very frequent (99-80%)
HP:0000083 Renal insufficiency Frequent (79-30%)
HP:0002992 Abnormality of tibia morphology Frequent (79-30%)
HP:0002997 Abnormality of the ulna Frequent (79-30%)
HP:0006501 Aplasia/Hypoplasia of the radius Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000478 Abnormality of the eye Occasional (29-5%)
HP:0000504 Abnormality of vision Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001171 Split hand 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID