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217 Possible Causes for Hypospadias, Sacral Dimple

  • Smith Lemli Opitz Syndrome

    Other rare associated malformations include diaphragmatic hernia, anal atresia, thymus hypoplasia, sacral dimple, pyloric stenosis, Hirschsprung’s disease.[omicsgroup.org] Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and is characterized by developmental delay, facial anomalies, hypospadias[ncbi.nlm.nih.gov] On examination, he had cyanosis, facial dysmorphism, obesity, bilateral cryptorchidism, hypospadias, inverted nipples, and systolic murmur over the left parasternal area.[ncbi.nlm.nih.gov]

  • Wolf Hirschhorn Syndrome

    dimples.[ncbi.nlm.nih.gov] Hypospadias is one of the most common anomalies of the male genital tract.[bmcpregnancychildbirth.biomedcentral.com] dimples and a characteristic face ('Greek helmet appearance') 1,2 .[cytocell.com]

  • Microphthalmia with Linear Skin Defects Syndrome

    dimple ; Sclerocornea ; Severe short stature ; Specific learning disability ; Status epilepticus ; Tricuspid regurgitation ; Tricuspid valve prolapse ; Visual loss ; Vitritis[mousephenotype.org] The patient was a boy who showed bilateral microphthalmia with corneal opacities, hypospadias without evidence of hypogonadism, and a conduction disturbance of the heart ([ncbi.nlm.nih.gov] dimple Hypopigmented skin patches Abnormality of dental enamel Abnormal eyelid morphology Echolalia Intellectual disability, progressive Ovotestis Abnormality of the rectum[mendelian.co]

  • Proud Syndrome

    Large fleshy hands, dysplastic toenails, sacral dimple, and large, differently formed ears are frequently observed. Is there a cure or treatment?[parentingspecialneeds.org] Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias.[uniprot.org]

  • Pentalogy of Cantrell

    Additional observations included a rather elongated skull, enlarged first toes and a deep sacral dimple ( Figure 3 ).[omicsonline.org] […] eventration of the viscera ectopia cordis with absence of the pericardium hypoplastic lung abdominal anomalies ventral hernia omphalocele urogenital malformations renal agenesis hypospadias[humpath.com] Autosomal dominant polycystic kidney disease in infant and fetus Lower urinary tract obstruction Posterior urethral valves Congenital tubular renal dysgenesis Urinary bladder Hypospadia[atlases.muni.cz]

  • Trisomy 4p

    dimple, anterior displacement of anus, simian creases, abnormal thumb (congenital clasped thumb), overlapping toes, and congenital hypothyroidism.[ncbi.nlm.nih.gov] Affiliated tissues include heart , and related phenotypes are cryptorchidism and hypospadias[malacards.org] Triangular face in adults * Poor dentition * Elongated chin * Clinodactyly of fifth fingers * Camptodactyly * Hypoplastic fingernails * Hypoplastic toenails * Small penis * Hypospadias[checkorphan.org]

  • Ring Chromosome 7

    dimples * * * * * * * * * * * * * 2 Spaced nipples * * * * * * * * * * * * * * Clinodactyly * * * * * * * * * * * * * * 2 Cardiovascular abnormality * * * * * * * * * 2 2[slideshare.net] Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).[rarediseases.info.nih.gov] […] disability 2 2 2 2 * * 2 2 Skeletal abnormality * 2 * * * * * * * 2 2 Craniosynostosis 2 * * * * * * * * * * * * * * 2 Inguinal hernia * * * * * * * * * * * * * * * * Small sacral[slideshare.net]

  • Cat Eye Syndrome

    dimple and right upper limb postaxial polydactyly.[ncbi.nlm.nih.gov] We present a male infant with preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome[ncbi.nlm.nih.gov] Males with CES may have undescended testes or hypospadias.[symptoma.com]

  • Tethered Cord Syndrome

    Tethered Cord Syndrome By: Jason Jernigan Assessment Healthy baby girl Frank breech presentation Delivered by scheduled C-section Sacral dimple Tethered cord (occult spinal[prezi.com] Complicated mesodermal anomalies were observed from birth: a ventricular septal defect, hydronephrosis, agenesis of the sacrum, hypospadias, and anal atresia.[ncbi.nlm.nih.gov] Most sacral dimples are harmless and don't require any treatment.[mayoclinic.org]

  • Ring Chromosome 13

    dimples – 50% Deletions are measured in units, kilobases or 1000 base pairs, and megabases or 1 million base pairs.[pmsf.org.uk] A five-year-old boy with psychomotor retardation, microcephaly, bilateral cataracts, hearing impairment and hypospadia with microphallus was found to have multiple cell lines[ncbi.nlm.nih.gov] […] phenotypic features like intellectual disability, marked short stature, brain and heart defects, microcephaly and genital malformations in males, including undescended testes and hypospadias[content.iospress.com]

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