Umbilical Anomaly: Causes & Reasons

Possible Causes for Umbilical Anomaly

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]

[…] and a positive family history) and five minor criteria (anorectal defects, dysplastic ears, skull ossification defects, umbilical abnormalities, nasal anomalies). [orpha.net]

Antenatally detected multiple congenital fetal anomalies during 22nd week of gestation is reported in this paper. [gorm.com.tr]

Patent Urachus

Patent urachus cyst is a rare umbilical anomaly, which is poorly detected prenatally and frequently confounded with pseudo bladder exstrophy or omphalocele. [ncbi.nlm.nih.gov]

Umbilical anomalies are a rare presentation in fetal and neonatal period. [ncbi.nlm.nih.gov]

Key words Patent urachus Patent omphalomesenteric duct Umbilical anomalies This is a preview of subscription content, log in to check access. References 1. [link.springer.com]

Malpuech Syndrome

Research Letter Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies [doi.org]

Campos, Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs [doi.org]

umbilical hernia. [doi.org]

Oculopalatoskeletal Syndrome

"Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?". [en.wikipedia.org]

Rare features include anterior chamber defects, cardiac anomalies, caudal appendages, umbilical hernias (omphalocele), and diastasis recti. [altmeyers.org]

Similar articles Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate [pubmed.ncbi.nlm.nih.gov]

Axenfeld-Rieger Syndrome

Umbilical anomalies were not present in any affected individuals. Cardiac defects are rare. Genetics This is an autosomal dominant disorder as in the other types. [disorders.eyes.arizona.edu]

It is characterized by dysgenesis of the anterior segment of the eye together with dental, cardiac, and umbilical anomalies. [ncbi.nlm.nih.gov]

Umbilical Fistula

Neonatal umbilical anomalies usually represent remains of the vitelline duct or the allantois. We describe a case of an umbilical appendix in a neonate. [ncbi.nlm.nih.gov]

[…] by bab.la Other dictionary words English umbilical umbilical anomalies umbilical bandage umbilical binder umbilical clamp umbilical cord umbilical cord blood storage umbilical [en.bab.la]

A newborn with an umbilical mass. Am Fam Physician 2005; 71:1590–1592. 5. Snyder CL. Current management of umbilical abnormalities and related anomalies. [journals.lww.com]

Axenfeld-Rieger Syndrome Type 3

Clinical signs overlap types 1 and 3 with dental, craniofacial, and ocular features, but with hearing impairment and rare umbilical anomalies.[4] Mutations in the FOXC1 gene [djo.org.in]

Clinical signs overlap types 1 and 3 with dental, craniofacial, and ocular features, but with hearing impairment and rare umbilical anomalies. [disorders.eyes.arizona.edu]

Urachal Cyst

Other Omphalitis – Inflammation of the umbilicus Single umbilical artery Controversy still exists over the single umbilical artery as a barometer of other congenital anomalies [urologyweb.com]

Allantoic cyst and persistent urachal-allantoic communication: a rare umbilical anomaly. J Pediatr Surg. 1998;33:1441-1442. 11. [annsaudimed.net]

The four anomalies of urachal closure include: patent urachus, umbilical urachal sinus, vesicourachal diverticulum, and urachal cyst. [med-ed.virginia.edu]

Macrocephaly Type Fryns

&/or rockerbottom feet, single umbilical artery Del 8p23.1 (OMIM 222400) GATA4 SOX7 5 Mild facial anomalies CHD (e.g., heterotaxy), renal anomalies, ID Del 8q22-q23 ZFPM2 [ncbi.nlm.nih.gov]

cardiovascular malformations, hypoplastic genitalia or cryptorchidism, severe prenatal growth deficiency, ID, talipes equinovarus &/or rockerbottom feet, single umbilical [ncbi.nlm.nih.gov]

[…] artery LRP2 Donnai-Barrow syndrome AR Core feature Facial anomalies (wide-set eyes, enlarged anterior fontanelle); high myopia, retinal detachment, progressive vision loss [ncbi.nlm.nih.gov]

Umbilical Cord Knot

Abstract The "lean" umbilical cord (also known as thin-cord syndrome) is a comparatively rare anomaly of the umbilical cord, which has seldom been described in the medical [ncbi.nlm.nih.gov]

Mesomelia-Synostoses Syndrome

Synonyms Mesomelia synostoses Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis Verloes-David syndrome Overview [rarediseases.org]

anomalies, and soft palate agenesis; Mesomelia synostoses; Verloes-David syndromeDominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft [rarediseases.info.nih.gov]

Hydronephrosis and mild vertebral anomalies are seen. At birth, is associated with short umbilical cord having unusually long skin coverage. [accessanesthesiology.mhmedical.com]

Spondylospinal Thoracic Dysostosis

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

Due to a lack of room in which to inflate, the lungs expand inferiorly, pushing down on the abdominal viscera resulting in secondary herniation, including umbilical, diaphragmatic [radiopaedia.org]

Abnormal Insertion of Umbilical Cord

Ultrasound Obstet Gynecol 29:192, 2007a Shen O, Reinus C, Baranov A, et al: Prenatal diagnosis of umbilical artery aneurysm: a potentially lethal anomaly. [accessmedicina.mhmedical.com]

Eur J Obstet Gynecol Reprod Biol 130:66, 2007 Delbaere I, Goetgeluk S, Derom C, et al: Umbilical cord anomalies are more frequent in twins after assisted reproduction. [accessmedicina.mhmedical.com]

Obstet Gynecol 107:1049, 2006 de Laat MW, van Alderen ED, Franx A, et al: The umbilical coiling index in complicated pregnancy. [accessmedicina.mhmedical.com]

Axenfeld Anomaly

Mutations in PIXT2 appear to be related with ocular, dental, and umbilical anomalies in ARS.[28] In addition to FOXC1 and PITX2 genes, mutations in the CYP1B1 gene (mapped [journals.lww.com]

No other cardiac anomalies were noted. [jamanetwork.com]

Systemic Dental and maxillofacial input is required to address dental and craniofacial anomalies. [gene.vision]

Spondylocostal Dysostosis Type 1

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

Due to a lack of room in which to inflate, the lungs expand inferiorly, pushing down on the abdominal viscera resulting in secondary herniation, including umbilical, diaphragmatic [radiopaedia.org]

Spondylocostal Dysostosis Type 3

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

Due to a lack of room in which to inflate, the lungs expand inferiorly, pushing down on the abdominal viscera resulting in secondary herniation, including umbilical, diaphragmatic [radiopaedia.org]

Spondylocostal Dysostosis Type 4

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

Due to a lack of room in which to inflate, the lungs expand inferiorly, pushing down on the abdominal viscera resulting in secondary herniation, including umbilical, diaphragmatic [radiopaedia.org]

Carnevale Krajewska Fischetto Syndrome

Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome [dergipark.org.tr]

Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs. Is Carnevale syndrome a separate entity?. [jbc.org]

anomalies in sibs: 3MC syndrome? [malacards.org]

Renal Agenesis - Meningomyelocele - Absence of Müllerian Structures

[…] hypoplasia, agenesis of right kidney, agenesis ovarian and mullerian in the right side, ectopic anus and single umbilical artery. [go.gale.com]

We report a stillborn female fetus 28 weeks with diagnosis of iniencephaly and the associated anomalies found were: facial dysmorphism, asymmetric thorax, right pulmonary [go.gale.com]

The embryologic pathogenesis of associated anomalies with iniencephaly could be related to a developmental field defect, with affectation of axial mesodermal structures and [go.gale.com]

Axenfeld-Rieger Syndrome Type 1

Clinical signs overlap types 1 and 3 with dental, craniofacial, and ocular features, but with hearing impairment and rare umbilical anomalies. [disorders.eyes.arizona.edu]

Clinical signs overlap types 1 and 3 with dental, craniofacial, and ocular features, but with hearing impairment and rare umbilical anomalies.[4] Mutations in the FOXC1 gene [djo.org.in]

Mutations in PIXT2 appear to be related with ocular, dental, and umbilical anomalies in ARS.[28] In addition to FOXC1 and PITX2 genes, mutations in the CYP1B1 gene (mapped [journals.lww.com]

Axenfeld-Rieger Syndrome Type 2

Umbilical anomalies were not present in any affected individuals. Cardiac defects are rare. Genetics This is an autosomal dominant disorder as in the other types. [disorders.eyes.arizona.edu]

Clinical signs overlap types 1 and 3 with dental, craniofacial, and ocular features, but with hearing impairment and rare umbilical anomalies.[4] Mutations in the FOXC1 gene [djo.org.in]

We report a patient with Peters anomaly, dysmorphic features, congenital heart defect, umbilical hernia, short stature, and developmental delay. [karger.com]

Meckel Diverticulitis

Umbilical anomalies These occur in up to 10% of patients and consist of fistulas, sinuses, cysts, and fibrous bands between the diverticulum and the umbilicus. [emedicine.medscape.com]

Umbilical anomalies Anomalies may include fistulas, cysts, sinuses and fibrous bands between the diverticulum and the umbilicus. [patient.info]

Chromosome 6q11-q14 Deletion Syndrome

The cardinal features of chromosome 6q11-q14 interstitial deletions include hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies [ncbi.nlm.nih.gov]

OMIM : 58 The cardinal features of chromosome 6q11-q14 interstitial deletions include hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract [malacards.org]

De Hauwere Syndrome

The two main genetic causes result in distinct conditions with overlapping ocular features: PITX2-related ARS is characterized by ocular, dental, and umbilical anomalies while [blogs.bmj.com]

PITX2 mutations and deletions were found in 24 patients with dental and/or umbilical anomalies seen in all. [pubmed.ncbi.nlm.nih.gov]

Figures Figure 1 Photograph of a patient (case 11) with ARS, demonstrating the characteristic facial features (a, b), dental defects (c, d), and umbilical anomaly (e). [pubmed.ncbi.nlm.nih.gov]

Hypertelorism Type Teebi

(i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. [orpha.net]

[…] chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical [orpha.net]

Simpson Dysmorphia Syndrome

[…] hernia, limb anomalies (polydactyly/brachydactyly of the hands, cutaneous syndactyly, nail hypoplasia), and genital involvement (cryptorchidism, hypospadias). [orpha.net]

[…] hernia), and skeletal anomalies.[3024][3025] Some people with the condition have a mild to severe intellectual disability. [rarediseases.org]

[…] and arrhythmias, vertebral segmental defects, abdominal visceromegaly (renal dysplasia/nephromegaly, spleenomegaly and hepatomegaly), diaphragmatic hernia, diastasis recti/umbilical [orpha.net]

Placenta Circumvallata

Battledore placenta presents with a marginal cord insertion. velamentous insertion of the cord In this anomaly, the umbilical cord is inserted directly to the fetal membranes [nursingcrib.com]

Ultrasound Obstet Gynecol 29:192, 2007a Shen O, Reinus C, Baranov A, et al: Prenatal diagnosis of umbilical artery aneurysm: a potentially lethal anomaly. [accessmedicina.mhmedical.com]

This condition may be associated with fetal anomalies. [nursingcrib.com]

Cervicothoracic Spina Bifida Aperta

[…] hypoplasia, agenesis of right kidney, agenesis ovarian and mullerian in the right side, ectopic anus and single umbilical artery. [go.gale.com]

We report a stillborn female fetus 28 weeks with diagnosis of iniencephaly and the associated anomalies found were: facial dysmorphism, asymmetric thorax, right pulmonary [go.gale.com]

The embryologic pathogenesis of associated anomalies with iniencephaly could be related to a developmental field defect, with affectation of axial mesodermal structures and [go.gale.com]

Omphalitis

Delayed Separation of the Umbilical Cord Attributable to Urachal Anomalies. Pediatrics August 2001 Anderson J, Philip A. [pedclerk.bsd.uchicago.edu]

[…] of the available congenital anomalies - fistulas). [medicine-for-you.com]

[…] discharge may be caused by various congenital or acquired conditions rarely due to embryonal anomalies, such as patent urachus, urachal cyst or sinus, patent vitelline duct [gpnotebook.co.uk]

Meckel Diverticulum

Umbilical anomalies These occur in up to 10% of patients and consist of fistulas, sinuses, cysts, and fibrous bands between the diverticulum and the umbilicus. [emedicine.medscape.com]

Umbilical anomalies Anomalies may include fistulas, cysts, sinuses and fibrous bands between the diverticulum and the umbilicus. [patient.info]

Anomalies of Omphalomesenteric Duct Human embryos initially have convex umbilical loops of primitive gut that communicate freely with the yolk sac through the omphalomesenteric [emedicine.com]