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]

WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME; WAGR Cytogenetic location: 11p13, Genomic coordinates (GRCh38): 11:31,000,000-36,400,000 Matching [ncbi.nlm.nih.gov]

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]

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]

Congenital Absence of the Penis

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

He has a wide experience for more than 30 years in the field of pediatric surgery with a special interest in pediatric urology, rare genitourinary anomalies, pediatric gynaecology [books.google.com]

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]

Anomalies Bladder The bladder is usually very large and irregular with a patent urachus identified in approximately 25% of patients. 4 PBS patients typically have a compliant [clinicalgate.com]

Fraser Syndrome

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]

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

anomalies). [encyclopedia.pub]

Ring Chromosome 10

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

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 (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]

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]

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]

Scoliosis occurs in approximately 60% of affected patients; hearing loss in over 50%; genitourinary anomalies in 25% to 35%; rib abnormalities in 33%; Sprengel deformity in [contemporarypediatrics.com]

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

Frasier Syndrome

anomalies, mental retardation syndrome (WAGR, 11p partial monosomy syndrome)) WT-1 (Wilms tumor, type 1, somatic (WT-1, nephroblastoma)) HGMD WT1 GeneCards WT1 GeneTests [databases.lovd.nl]

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

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

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]

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]

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]

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]

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]

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]

CHARGE Syndrome

CHARGE syndrome comprises coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genitourinary anomalies and ear and hearing defects. [ncbi.nlm.nih.gov]

CHARGE syndrome is a rare congenital condition that manifests with anomalies of coloboma, heart defects, choanal atresia, mental retardation, genitourinary and ear anomalies [ncbi.nlm.nih.gov]

anomalies and E-ear anomalies and/or hearing loss. [ejournal2.undip.ac.id]

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]

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]

Megacystis - Megaureter Syndrome

When a fetal genitourinary anomaly is suspected, a more detailed evaluation is necessary. [kundoc.com]

Prospects for fertility in patients born with genitourinary anomalies. J Urol 2001;165:2354-60. 11. Leeners B, Sauer I, Schefels J, Cotarelo CL, Funk A. [jnsbm.org]

The anterior abdominal wall muscles are absent in 30% of cases, replaced by dense collagenous tissue and hypoplastic with areas of absence in 70%. 2 The genitourinary anomalies [nature.com]

Acrorenal Mandibular Syndrome

Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. [mendelian.co]

Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. [mendelian.co]

Lipomyelomeningocele

Concomitant anorectal/genitourinary anomalies, filar lipoma, fatty filum, previous TCR, and follow-up Catheterization Counseling Lipoma Lipomyelomeningocele Spinal dysraphism [scholars.northwestern.edu]

There were several associated anomalies, such as occult spina bifida, syringomyelia, sacrococcygeal dysgenesis, high-types imperforate anus, genitourinary anomalies, congenital [ncbi.nlm.nih.gov]

Concomitant anorectal/genitourinary anomalies, filar lipoma, fatty filum, previous TCR, and follow-up RESULTS: A total of 56 patients met inclusion criteria. [ncbi.nlm.nih.gov]

Nephroblastoma

(DDS), WAGR (Wilms' tumor, aniridia, genitourinary anomalies, mental retardation), Beckwith-Wiedemann (BWS) syndromes which usually arise as de novo events. [termedia.pl]

Aniridia in some individuals is associated with kidney nephroblastoma (Wilms tumor), genitourinary anomalies, or mental retardation and cerebellar ataxia (Gillespie syndrome [diki.pl]

About 10% of Wilms' tumors occurs in individuals with congenital anomalies such as cryptorchidism/hypospadias, hemihypertrophy, or malformation syndromes, particularly Denys-Drash [termedia.pl]

Supernumerary Kidney

In those infants that present with anorectal malformation, approximately half will also have one or more genitourinary anomalies.' [mafiadoc.com]

Supernumerary kidney and cloacal exstrophy are rare anomalies of the genitourinary tract. [ncbi.nlm.nih.gov]

More than 50% of patients have associated genitourinary anomalies - eg, cryptorchidism, renal agenesis and dysplasia. [patient.info]

Femoral Agenesis - Femoral Hypoplasia

anomalies. [unboundmedicine.com]

Severe manifestations with early lethality, vertebral & genitourinary anomalies have been reported (Urban, Johnson), particularly in association with maternal diabetes. [mediscansystems.org]

anomalies 2. [onlinelibrary.wiley.com]

Hand-Foot-Genital Syndrome

Format Definition A disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. [uniprot.org]

We report on a father and daughter with hand-foot-genital syndrome (HFGS) with typical skeletal and genitourinary anomalies due to a 14-residue polyalanine expansion in HOXA13 [ncbi.nlm.nih.gov]

They documented the genitourinary abnormalities in her 2 affected sisters, not previously examined, and documented hypospadias and urinary tract anomalies in 2 males from [genome.jp]