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1,100 Possible Causes for Cleft Palate, Polycystic Kidney Disease

  • Meckel-Gruber Syndrome

    The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS).[ncbi.nlm.nih.gov] disease.[ncbi.nlm.nih.gov] Multiple anomalies including occipital encephalocele, bilateral polycystic kidneys, cleft lip, cleft palate, and polydactyly were also detected in the obstetric ultrasonography[ncbi.nlm.nih.gov]

  • Patau Syndrome

    […] lip, and cleft palate.[learningaboutelectronics.com] The kidneys and gastrointestinal system may also be affected with cysts similar to those seen in polycystic kidney disease .[medical-dictionary.thefreedictionary.com] Some of these anomalies are listed here: Craniofacial defects Scalp defects Low-set ears Cleft lip Cleft palate Bulbous nose Hypotelorism Micrognathia Limb defects Polydactyly[symptoma.com]

  • Larsen's Syndrome

    A retrospective study of 45 cases of Larsen's syndrome reported since 1950 reveals a prevalence of cleft palate in this disease of about 30 per cent.[ncbi.nlm.nih.gov] Several types of polycystic kidney disease have been reported in children.[ncbi.nlm.nih.gov] Polycystic kidney disease. N Engl J Med. 2004;350:151-64. 5. Klahr S, Breyer JA, Beck GJ, et al.[revistas.javeriana.edu.co]

  • Hypertelorism and Tetralogy of Fallot

    Lip and palate anomalies are often present, manifesting as bilateral cleft lip and cleft palate [ 1 , 7 ], unilateral cleft lip and palate [ 3 ], cleft palate only [ 2 , 5[ojrd.biomedcentral.com] Differential diagnosis Differential diagnoses include biliary atresia, congenital hepatic fibrosis, cystic fibrosis, neonatal jaundice, polycystic kidney disease, progressive[orpha.net] Piere-Robin2, 11 or 17.Cleft palate; micrognathia; glossoptosis.Feeding difficulty; noisy breathing; GORD.[dontforgetthebubbles.com]

  • Aortic Disease

    Patients with typical dysmorphic features (hypertelorism, craniosynostoses, cleft palate) are classified as LDS type 1; those with mild dysmorphic features (only hypertelorism[annalscts.com] Connective tissue disorders (such as Ehler-Danlos disorder, polychondritis, scleroderma, osteogenesis imperfecta, polycystic kidney disease and Turners Syndrome).[hopkinsmedicine.org] kidney disease and Turner syndrome) Dissection or tear – An aortic dissection, usually caused by high blood pressure, is a serious condition in which there is a tear in the[northwell.edu]

  • Amelogenesis imperfecta Type Hypomaturation

    Cleft palate is also addressed, with details on etiology, phenotypes, treatment timing and approaches, and dental management.[books.google.es] kidney disease autosomal recessive pseudohypoaldosteronism type 1 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 autosomal recessive pyridoxine-refractory[rgd.mcw.edu] […] recessive osteopetrosis 6 autosomal recessive osteopetrosis 7 autosomal recessive osteopetrosis 8 autosomal recessive pericentral pigmentary retinopathy autosomal recessive polycystic[rgd.mcw.edu]

  • Diabetic Embryopathy

    […] lip with/without cleft palate, cleft palate, Pierre Robin sequence seen in up to 20% of pregnancies complicated by diabetes, most often associated with maternal GDM of longer[quizlet.com] polycystic kidneys (ADPKD) Autosomal dominant polycystic kidney disease in infant and fetus Lower urinary tract obstruction Posterior urethral valves Congenital tubular renal[atlases.muni.cz] The infant girl showed cleft palate, abnormal ears, renal abnormalities, and severe peromelia of the lower limbs with the left leg vestigial.[jamanetwork.com]

  • Autosomal Dominant Spondylocostal Dysostosis

    palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Macrocephaly / macrocrania / megalocephaly [csbg.cnb.csic.es] kidney disease (PKD) and Alport syndrome (AS) are serious inherited disorders associated with renal disease, and thalassemia is a hereditary blood disease with a high prevalence[clinsci.org] Congenital malformation H00516 Cleft lip and/or cleft palate Cleft lip and/or cleft palate (orofacial cleft, OFC) represents a spectrum of craniofacial anomalies.[kegg.jp]

  • Iniencephaly

    The most frequent single malformations were: hydronephrosis (8%), cleft palate (8%), diaphragmatic hernia (5%), exomphalos (5%), hare lip (4%), and horseshoe kidney (4%).[ncbi.nlm.nih.gov] polycystic kidneys (ADPKD) Autosomal dominant polycystic kidney disease in infant and fetus Lower urinary tract obstruction Posterior urethral valves Congenital tubular renal[atlases.muni.cz] […] lip and cleft palate, cardiovascular disorders, diaphragmatic hernia , and gastrointestinal malformation.[medicinenet.com]

  • Autosomal Dominant Rhegmatogenous Retinal Detachment

    Pierre Robin sequence includes cleft palate, a large tongue (macroglossia), and a small lower jaw (micrognathia). What causes Stickler Syndrome?[aapos.org] Also known as polycystic kidney disease. Is specific diagnostic evidence required to apply the SOP? – Yes.[clik.dva.gov.au] The presence of a cleft palate or a typical Pierre-Robin sequence facies may be readily apparent and provide helpful diagnostic information.[eyewiki.aao.org]

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