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83 Possible Causes for Congenital Clubfoot, Hydronephrosis, Polycystic Kidney Disease

  • Ventriculomegaly-Cystic Kidney Disease

    […] multicystic dysplastic kidney, polycystic kidney disease, and renal agenesis bladder outlet obstruction persistent cloaca and ambiguous genitalia Musculoskeletal Conditions clubfoot[nyulangone.org] The two main types of polycystic kidney disease, caused by different genetic flaws, are: Autosomal dominant polycystic kidney disease (ADPKD).[mayoclinic.org] […] outlet obstruction Posterior urethral valves Multicystic kidney disease (MCKD) Ovarian cysts Polycystic kidney disease Renal agenesis Renal cysts Urinary tract dilation Hydronephrosis[childrensmn.org]

  • Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome

    Others include spina bifida , cleft palate , clubfoot , and congenital dislocated hip .[m.kidshealth.org] Cystine stones, mostly seen in children, are 2/2 to cystinuria and radiopaque, hexagonal, Test with sodium nitroprusside ( ), Rx: Alkalinization of urine and hydration What is hydronephrosis[quizlet.com] OBJECTIVES: The published natural history of congenital hepatic fibrosis (CHF) was examined to inform clinical decision making in autosomal recessive polycystic kidney disease[ncbi.nlm.nih.gov]

  • Bilateral Renal Agenesis

    .: Bilateral absence of the kidneys and related congenital anomalies. J. Path. Bact. 68 , 459 (1954). Google Scholar 7.[link.springer.com] Antenatal hydronephrosis Sometimes, unilateral renal agenesis can be seen with another condition that happens in the womb, called antenatal hydronephrosis .[infokid.org.uk] Surface view of a fetal kidney with multiple cysts (arrowheads) characteristic of polycystic kidney disease. B. Section of the kidney in A, showing multiple cysts.[78stepshealth.us]

  • Hirschsprung Disease - Nail Hypoplasia - Dysmorphism

    , congenital hip dislocation, craniofacial asymmetry, over folded ear….. 28. 02/25/15 Sid 28 Disruption • Defect of morphogenesis resulting from a destructive breakdown of[slideshare.net] Symptoms via clinical synopsis from OMIM: 57 GI: hirschsprung megacolon imperforate anus HEENT: minor dysmorphic facies Abdomen: inguinal hernia Nails: hypoplastic nails GU: hydronephrosis[malacards.org] Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings.[connection.ebscohost.com]

  • Dyschondrosteosis-Nephritis Syndrome

    , Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly CCF 119800 Genetic Test Registry COACH Syndrome Cerebellar Vermis Hypo/Aplasia, Oligophrenia[ukgtn.nhs.uk] kidney disease - Not a rare disease Polycystic kidneys, severe infantile with tuberous sclerosis Polyomavirus allograft nephropathy Porphyria cutanea tarda Postorgasmic illness[rarediseases.info.nih.gov] ) - Peutz-Jeghers syndrome (STK11) - PHENYLKETONURIA (PAH gene) - POLYCYSTIC KIDNEY DISEASE - AUTOSOMAL RECESSIVE (PKHD1) - linkage analysis - polycystic kidney disease (PKD1[laboratoriogenoma.eu]

  • Patau Syndrome

    The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas[ncbi.nlm.nih.gov] […] hypertelorism, cleft lip, cleft palate, deformed ears, congenital heart disease, microcephaly, sloping forehead, wide sagittal suture and fontanelles, an abnormal thumb, hydronephrosis[whonamedit.com] The kidneys and gastrointestinal system may also be affected with cysts similar to those seen in polycystic kidney disease .[medical-dictionary.thefreedictionary.com]

  • Brachydactyly Coloboma and Anterior Segment Dysgenesis

    clubfoot Cleft palate with ankyloglossia Warsaw breakage syndrome Tuberous sclerosis complex (TSC) Schinzel-Giedion midface retraction syndrome Growth retardation, developmental[csirnotes.com] […] cases Molar tooth sign on MRI Occipital encephalocele Postaxial foot polydactyly Cleft lip Dandy-Walker malformation Growth delay Microcephaly Strabismus Cataract Ptosis Hydronephrosis[mendelian.co] Kidney Disease ; 30.4 Autosomal Dominant Polycystic Kidney Disease ; 30.5 Renal Dysplasia ; 30.6 Familial Nephronophthisis/Medullary Cystic Disease ; 30.7 Medullary Sponge[amazon.de]

  • Musculocontractural Ehlers-Danlos Syndrome

    Adducted thumb and clubfoot syndrome Overview Type of disease: Rare conditions Adducted thumb and clubfoot syndrome (ATCS) is an autosomal recessive connective tissue disorder[globalgenes.org] Acronym EDSMC1 Synonyms Adducted thumb-clubfoot syndrome Adducted thumbs-arthrogryposis Dundar type Arthrogryposis distal with peculiar facies and hydronephrosis ATCS Dundar[uniprot.org] kidney disease 2, 613095 Connective Tissue Disorders Tags No list SERPINA1 1 review Not set Sources Emory Genetics Laboratory Expert Review Removed Tags No list TSC1 1 review[panelapp.genomicsengland.co.uk]

  • Agenesis of the Corpus Callosum and Congenital Lymphedema

    […] lymphedema Magnetic resonance imaging (MRI) and ultrasound in fetal diagnosis Meckel Gruber syndrome Microcephaly Molar pregnancy MRI, Cleft lip/palate MRI, Clubfoot MRI,[feto3d.com] Holt Oram Syndrome Holt-Oram Syndrome Homocystinuria Homolateral Brain Syndrome Horner's syndrome Hunter Syndrome (MPSII) Huntington’s Disease Hydranencephaly Hydrocephalus Hydronephrosis[geneticalliance.org.au] […] contractural syndrome 3) PITPNM3 (Cone-rod dystrophy 5) PITX1 (Clubfoot, congenital) PITX2 (Axenfeld-Rieger syndrome, type 1) PITX3 (Anterior segment mesenchymal dysgenesis[en.praenatal-medizin.de]

  • Teebi-Shaltout Syndrome

    Talipes equinovarus MedGen UID: 3130 • Concept ID: C0009081 • Congenital Abnormality Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus[ncbi.nlm.nih.gov] […] some patients) thick frenula more Head And Neck Head: scaphocephaly microcephaly (rare) abnormal head shape dolichocephaly (rare) turricephaly (rare) Genitourinary Kidneys: hydronephrosis[malacards.org] kidney disease, adult type Polycystic kidney disease, infantile type Polycystic kidney disease, infantile, type I Polycystic kidney disease, recessive type Polycystic kidney[sosu.us]

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