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21 Possible Causes for Hypoplasia of Scrotum, 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]

  • Ring Chromosome 18

    dimple, hypotonia, ventriculomegaly, and a ventricular septal defect.[ncbi.nlm.nih.gov] Our r(18) patient had anal atresia, abnormal lumbar and sacral vertebrae, hypospadia, cryptorchism, bifid scrotum, ureteral flow abnormality, radial dysplasia and thumb hypoplasia[molecularcytogenetics.biomedcentral.com] dimple.[en.wikipedia.org]

  • Emanuel Syndrome

    dimple, severe hearing impairment, unilateral renal agenesis, ventricular septal defect (hole in the wall separating the two lower chambers of the heart), facial asymmetry[xpertdox.com] Diaphragmatic hernia and hypoplasia or eventration of the diaphragm have been observed.[ncbi.nlm.nih.gov] […] two major blood vessels leading from the heart), premature birth, ptosis (drooping of upper eyelids), recurrent candida infections, redundant neck skin, renal hypoplasia, sacral[xpertdox.com]

  • Acro-Fronto-Facio-Nasal Dysostosis

    dimple ?[myslide.es] Affiliated tissues include eye , skin and bone , and related phenotypes are hypospadias and bifid scrotum Disease Ontology : 12 A dysostosis characterized by intellectual[malacards.org] dimple.[dokumen.tips]

  • Naguib Syndrome

    dimple Spinal dimple 0000960 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Broad hallux Broad big toe Wide[rarediseases.info.nih.gov] […] interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints flat broad feet with bulbous toes genital anomalies shawl scrotum[radiopaedia.org] Abnormality of the toenails [ more ] 0008388 Encephalocele 0002084 Exencephaly 0030769 Macrogyria 0007227 Pachygyria 0001302 Polymicrogyria More grooves in brain 0002126 Sacral[rarediseases.info.nih.gov]

  • Congenital Malformation Syndromes due to Exogenous Causes

    dimple( Q82.6 ) 23 Other specified congenital malformations of skin( Q82.8 ) 24 Congenital malformation of skin, unspecified( Q82.9 ) 25 Congenital malformations of breast[coder.aapc.com] […] of testis and scrotum Q55.2 Other congenital malformations of testis and scrotum Q55.3 Atresia of vas deferens Q55.4 Other congenital malformations of vas deferens, epididymis[pps.ivant.com] […] of testis and scrotum Includes: Fusion of testes Q55.20 Unspecified congenital malformations of testis and scrotum Includes: Congenital malformation of testis or scrotum[app.drchrono.com]

  • Odonto Tricho Ungual Digito Palmar Syndrome

    dimple Q82.8 Other specified congenital malformations of skin Q82.9 Congenital malformation of skin, unspecified This page was last updated on: 10/1/2018[healthprovidersdata.com] , sternum, clavicles, and scapulae]; Pectus excavatum ABDOMEN: [External features]; Prominent umbilicus; Inguinal hernia GENITOURINARY: [External genitalia, male]; Shawl scrotum[findzebra.com] Hereditary lymphedema Q82.1 Xeroderma pigmentosum Q82.2 Congenital cutaneous mastocytosis Q82.3 Incontinentia pigmenti Q82.5 Congenital non-neoplastic nevus Q82.6 Congenital sacral[healthprovidersdata.com]

  • 14q11-q22 Microdeletion Syndrome

    dimple High palate Mitral valve prolapse Bilateral cleft lip Myopathy Edema Cardiomyopathy Coarctation of aorta Short palpebral fissure Oxycephaly Pes planus Hyperkeratosis[mendelian.co] Bifid scrotum Congestive heart failure Preaxial polydactyly Supernumerary nipple Facial cleft Shawl scrotum Irregular vertebral endplates Broad foot Urethral valve Caudal[mendelian.co] […] atresia Cleft upper lip Anteriorly placed anus Coarse facial features Hyperextensible skin Omphalocele Wormian bones Blue sclerae Triangular face Agenesis of corpus callosum Sacral[mendelian.co]

  • 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] […] or agenesis of digits, valgus or varus deformities of the feet and syndactyly, genitourinary anomalies (such as cryptorchidism, absent or cleft scrotum, inguinal hernia,[pediatrics.aappublications.org] […] regurgitation ; Mitral valve prolapse ; Mutism ; Posterior embryotoxon ; Respiratory distress ; Respiratory failure ; Retinal dysplasia ; Retinal dystrophy ; Retrognathia ; Sacral[mousephenotype.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] * Undescended testes * Dysplasia of labia majora * Dysplasia of clitoris * Penoscrotal transposition * Adrenal hypoplasia * Growth retardation * Motor retardation * Speech[checkorphan.org] […] teeth grinding or tongue thrusting Decreased perception of pain Aggressiveness such as hitting, biting or hair pulling Seizures – 25% Anachroid cysts – 15% Sleep disturbance Sacral[pmsf.org.uk]

Further symptoms