Genitourinary Anomalies: Causes & Reasons

Possible Causes for Genitourinary Anomalies

Genitourinary anomalies are common in MWS. Here we report that hypospadias is common in males with this syndrome. [ncbi.nlm.nih.gov]

[…] by a distinct facial phenotype, intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies, congenital [genome.jp]

Other clinical features can include congenital heart defects, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and [en.wikipedia.org]

Popliteal Pterygium Syndrome

Popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. [ncbi.nlm.nih.gov]

[…] that include hypoplasia or agenesis of digits, valgus or varus deformities of the feet and syndactyly, genitourinary anomalies (such as cryptorchidism, absent or cleft scrotum [pediatrics.aappublications.org]

[…] of popliteal pterygium syndrome is suggested for a well defined complex that consists of popliteal pterygium (usually bilateral), intercrural pterygium, various digital anomalies [pediatrics.aappublications.org]

Aniridia

anomalies (GU) (hypospadias and kryptorchism in males) mental retardation (growth retardation) various combinations of these features can be present, partly depending on [atlasgeneticsoncology.org]

The association with genitourinary anomalies and mental retardation is known as WAGR Syndrome. Most patients have prominent lips and macrognathia. [accessanesthesiology.mhmedical.com]

In exceptional cases, aniridia can be associated with systemic pathologies such as Wilms tumours, intellectual disability and genitourinary anomalies. [barraquer.com]

Congenital Absence of the Penis

He is the author of a recently published Illustrative textbook “Rare Congenital Genitourinary Anomalies”, Springer, 2015. [books.google.com]

A Diphallus may be associated with other congenital genitourinary anomalies like a bifid scrotum; double bladder, ectopic kidney or diastersis of the pubis. [1] None of these [ijdvl.com]

More than half of these patients have associated anomalies including genitourinary (54%) and gastrointestinal tract anomalies and developmental defects of caudal axis [6]. [ncbi.nlm.nih.gov]

Unilateral Renal Agenesis

We suggest that ergotamine teratogenicity may be dose dependent and should be avoided in pregnancy for the possibility of genitourinary anomalies. [ncbi.nlm.nih.gov]

anomalies. [ncbi.nlm.nih.gov]

It is frequently associated with other genitourinary anomalies in both males and females. [ijri.org]

Bladder Duplication

Tubular duplication of the hindgut with genitourinary anomalies. J Pediatric Surg. 1992; 27:1239-1240. Hoffman AD, Leroy AJ. Uroradiology: Procedures and anatomy. [appliedradiology.com]

Incomplete bladder duplication is often associated with other genitourinary anomalies [2,3] and can even be associated with bladder exstrophy [4]. [bjuinternational.com]

anomalies [2], [3] and can even be associated with bladder exstrophy. [4] We present a case of incomplete bladder duplication in a male child with no other associated anomalies [saudisurgj.org]

Horseshoe Kidney

As with other genitourinary anomalies the presence of a horseshoe kidney should prompt a thorough urologic evaluation. [ncbi.nlm.nih.gov]

It is also more commonly found in men as compared with women in a ratio of 2:1.An increased association of genitourinary anomalies have been found with HSK.Duplication of [ncbi.nlm.nih.gov]

Prune Belly Syndrome

Prune-belly syndrome (PBS) is an association of abdominal wall deficiency, genitourinary anomalies, and in males, cryptorchidism. [ncbi.nlm.nih.gov]

Eagle JF, Barrett GS (1950) Congenital deficiency of abdominal musculature with associated genitourinary anomalies: a syndrome. Report of 9 cases. [link.springer.com]

Absent in control databases, V61G was previously reported in 2 patients without prune belly syndrome who had congenital genitourinary anomalies. [ncbi.nlm.nih.gov]

Ring Chromosome 10

Congenital heart disease and genitourinary anomalies were reported in some cases. [orpha.net]

Fraser Syndrome

The syndromic spectrum can comprise of: cryptophthalmos syndactyly: often cutaneous tracheal atresia / laryngeal atresia genitourinary anomalies micropenis cryptorchidism [radiopaedia.org]

Clinical evaluation revealed bilateral total cryptophthalmos and enlarged globes in addition to genitourinary anomalies, umbilical hernia, renal agenesis, and facial anomalies [ncbi.nlm.nih.gov]

anomalies). [encyclopedia.pub]

Denys-Drash Syndrome

Unlike WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome, with its complete deletion of one copy of WT1, Denys-Drash syndrome is generally [ncbi.nlm.nih.gov]

The most common genitourinary anomalies in males is cryptorchidism. Females may have underdeveloped ovarian tissue and bicornuate uterus, leading to fertility issues. [invitae.com]

Genitourinary anomalies and Wilms tumor The exact risk for Wilms tumor with this condition is uncertain, but thought to be increased over the general population. [stjude.org]

Congenital Non-Progressive Ataxia

Variation info Gene PAX6 CLNDBN not specified Keratitis, hereditary Aniridia Anophthalmia Foveal hypoplasia and presenile cataract syndrome Wilms tumor, aniridia, genitourinary [snpedia.com]

Aniridi a in some individuals is associated with kidney nephroblastoma (Wilms tumor), genitourinary anomalies, or intellectual disability and cerebellar ataxia (Gillespie [monsterologist.blogspot.com]

Three of these have associated renal anomalies, including Wilms tumor with other genitourinary anomalies and mental retardation, sometimes called WAGR ( 194072 ) syndrome, [disorders.eyes.arizona.edu]

Ectopic Ureter

We discuss the increasing value of magnetic resonance imaging in identifying subtle pediatric genitourinary anomalies, such as in our case, and discuss the management options [ncbi.nlm.nih.gov]

The differential diagnosis of a difficult urethral catheterization should include occult congenital genitourinary anomalies. [ncbi.nlm.nih.gov]

It is also more commonly found in men as compared with women in a ratio of 2:1.An increased association of genitourinary anomalies have been found with HSK.Duplication of [ncbi.nlm.nih.gov]

Acrootoocular Syndrome

American Journal of Medical Genetics 33(4): 479-482, 1989 Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies. [eurekamag.com]

Other typical characteristics are cardiovascular anomalies, genitourinary anomalies and pulmonary anomalies. [pocketdentistry.com]

Minor features include distinctive facial dysmorphology, facial clefting, tracheoesophageal fistula, congenital heart defects, genitourinary anomalies, developmental delay [emedicine.medscape.com]

Frasier Syndrome

The most common genitourinary anomalies in males is cryptorchidism. Females may have underdeveloped ovarian tissue and bicornuate uterus, leading to fertility issues. [invitae.com]

Genitourinary (GU) anomalies syndrome Individuals with GU anomalies syndrome may develop the following clinical features: Higher risk of developing Wilms tumor: The risk of [chop.edu]

The syndromic spectrum can comprises of: cryptophthalmos syndactyly : often cutaneous tracheal atresia / laryngeal atresia genitourinary anomalies micropenis cryptorchidism [radiopaedia.org]

Low Anorectal Malformation

Therefore, this condition must be considered in older infants and children presenting with constipation, particularly if they also have cardiac or genitourinary anomalies. [pediatrics.aappublications.org]

4-6,7 Associated anomalies are more common in high than low level deformities. 5 The true incidence of genitourinary anomalies found in patients with ARM may only be detected [pjms.com.pk]

[…] include genitourinary defects (in approximately 50% of patients) and spinal anomalies. [humpath.com]

Klippel-Feil Syndrome

July 1974 Am J Dis Child. 1974;128(1):92-93. doi:10.1001/archpedi.1974.02110260094019 Full Text Extensive genitourinary anomalies have not been well established as an associated [jamanetwork.com]

[…] encephalocele. 4, 5 There is a high frequency of reported genitourinary anomalies in KFS, especially renal anomalies. [nature.com]

[…] development anomalies. [ncbi.nlm.nih.gov]

Hemivertebra

A careful neonatal assessment for associated cardiac and genitourinary anomalies needs to be performed and the infant should receive long term orthopedic follow-up so treatment [thefetus.net]

genitourinary tract anomalies are the most common extramusculoskeletal anomalies seen with hemivertebra. [ncbi.nlm.nih.gov]

A careful neonatal assessment for associated cardiac and genitourinary anomalies needs to be performed.2,8 The surgical treatment of congenital scoliosis is aimed at producing [ncbi.nlm.nih.gov]

Ectopic Testis

This edition includes new chapters on laparoscopy in pediatric urology, sports recommendations for children with solitary kidneys and other genitourinary anomalies, preparing [books.google.com]

Many patients with crossed testicular ectopia present also some other genitourinary anomalies [17,18]. [jpss.eu]

Anabdominal ultrasound should be earned out to discover any associated genitourinary anomaly, which was done inourcase post-operatively. [jpma.org.pk]

Bilateral Renal Agenesis

Bilateral Renal Agenesis Normal amniotic fluid at 8 wks 3 days Anhydramnios at 19 weeks ASSOCIATED NON GENITOURINARY ANOMALIES Link to Non genitourinary anomalies associated [fetalultrasound.com]

We compared the phenotype with the two previously reported fetuses as well as with syndromes and disorders that may present prenatally with genitourinary anomalies plus acromesomelia [orbi.ulg.ac.be]

Since renal dysgenesis may be a sentinel event, then an increase in this birth defect suggests that other, less severe genitourinary anomalies also may be increasing. [cdc.gov]

Double Urethra

anomalies. [ncbi.nlm.nih.gov]

MRI and CT scan help in diagnosing the accompanying genitourinary and gastrointestinal abnormalities (including solitary kidney, Mullerian anomalies, duplicated colons and [jpma.org.pk]

[…] include annoying symptoms such as a double stream (most common), urinary incontinence, ambiguous genitalia, perineal sinuses, urinary obstruction or infection, and associated genitourinary [ncbi.nlm.nih.gov]

Adactyly of Foot

Scalp defect, genitourinary anomalies with atresia of the nasolacrimal duct and buphthalmos(3-6). [indianpediatrics.net]

anomalies (9). [musculoskeletalkey.com]

[…] such as ectrodactyly-ectodermal dysplasia-clefting syndrome, sometimes referred to as EEC syndrome, with pathology including cleft lip and palate, ectodermal defects, and genitourinary [musculoskeletalkey.com]

Spondylocostal Dysostosis Type 1

[…] and genitourinary anomalies, and occasionally neural tube defects (including spinal dysraphism and Chiari malformation). [radiopaedia.org]

Vertebral anomalies occur at all levels of the spine, including: butterfly vertebrae hemivertebrae fused vertebrae hypoplastic vertebrae Associated abnormalities include cardiac [radiopaedia.org]

Gonadal Disease

Anomalies, And Mental Retardation Syndrome Chromosome 11p13 Deletion Syndrome AD 98.92% 178 of 185 ZFPM2 46 XY Partial Gonadal Dysgenesis, 46 XY Sex Reversal, Congenital [igenomix.es]

Desmoplastic Small Round Cell Tumor, Frasier Syndrome, Meacham Syndrome, Mesothelioma, Malignant, Nephroblastoma, Nephrotic Syndrome, WAGR Syndrome, Wilms Tumor, Aniridia, Genitourinary [igenomix.es]

Neonatal Urinary Tract Infection

Ultrasound as a screening test for genitourinary anomalies in children with UTI. Pediatrics. 2014;133(3):e394-403. [revistas.udea.edu.co]

Spondylospinal Thoracic Dysostosis

[…] and genitourinary anomalies, and occasionally neural tube defects (including spinal dysraphism and Chiari malformation). [radiopaedia.org]

Vertebral anomalies occur at all levels of the spine, including: butterfly vertebrae hemivertebrae fused vertebrae hypoplastic vertebrae Associated abnormalities include cardiac [radiopaedia.org]

Total Congenital Cataract

Anomalies, And Mental Retardation Syndrome, Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome AD 100 460 of 485 PITX2 Iridogoniodysgenesis Type 2, Rieger Syndrome [igenomix.es]

Ocular Coloboma, Foveal Hypoplasia And Presenile Cataract Syndrome, Hereditary Keratitis, Optic Nerve Hypoplasia, Bilateral Optic Nerve Aplasia, Wilms Tumor, Aniridia, Genitourinary [igenomix.es]

Chromosome 19q Duplication

genitourinary anomalies, gastrointestinal defects, seizures and facial dysmorphisms (receding forehead, ptosis, hypertelorism, flat nasal bridge, small nose, short philtrum [molecularcytogenetics.biomedcentral.com]

Only four cases were the result of pure duplications.1–4 The phenotype described includes microcephaly, heart malformations, anomalies of the genitourinary tract or gastrointestinal [jmg.bmj.com]

[…] of clinical phenotypes, including growth and psychomotor retardation, intellectual disability, low birth weight, microcephaly, short neck, heart malformations, skeletal anomalies [molecularcytogenetics.biomedcentral.com]

Double Inferior Vena Cava

Usually, an incidental detection, while evaluating genitourinary anomalies. [radiopaedia.org]

Associations horseshoe kidney circumaortic renal collar crossed fused ectopia retroaortic left renal vein cloacal exstrophy Case reports of association with ureteropelvic junction anomaly [radiopaedia.org]

Omodysplasia

anomalies (Saal et al., 2015). [ncbi.nlm.nih.gov]

anomalies. [fdna.health]

[…] rare autosomal dominant skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary [ncbi.nlm.nih.gov]