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2,316 Possible Causes for No Polydactyly, Nystagmus in Infancy, Onset of Renal Dysfunction in Early Childhood

  • Alstrom Syndrome

    Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG).[medcaretips.com] […] childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly[ncbi.nlm.nih.gov] Sufferers often develop early-onset type 2 diabetes, renal and hepatic dysfunction affecting the liver and kidneys, bladder and bowel problems, and cardiomyopathy, where the[dailymail.co.uk]

  • Smith Lemli Opitz Syndrome

    Smith-Lemli-Opitz Syndrome is diagnosed either prenatally, after birth, or in infancy.[dovemed.com] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov] , sex reversal, renal hypoplasia, and unilobular lung Rsh Syndrome Lethal Acrodysgenital Syndrome Slo Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung[wikidata.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Spasmus Nutans

    Program Number R2016121 Room Ballroom A-B Affiliation Southern College of Optometry Abstract Spasmus nutans is a rare form of nystagmus presenting in infancy with a triad[aaopt.org] RESULTS: Polydactyly, truncal obesity, mild delay in cognitive development, visual acuity of 20/100, attenuated retinal vessels and pale disks, and bilaterally almost extinguished[ncbi.nlm.nih.gov] A better designation would be acquired nystagmus of infancy, which would not imply a benign etiology.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Bardet-Biedl Syndrome Type 11

    BNG018 BPPV Benign Paroxysmal Torticollis of Infancy BNG078 Benign Peritoneal Mesothelioma BNG001 Benign Perivascular Tumor BNG033 Benign Pleural Mesothelioma BNG022 Benign[malacards.org] Polydactyly-type limb anomalies - these may be the only feature present at birth and are reported in 63-81% of patients.[patient.info] […] recessive form of Bardet-Biedl syndrome (OMIM:209900), a genetically heterogeneous disorder characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly[medical-dictionary.thefreedictionary.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Behcet disease Benign essential blepharospasm Benign focal seizures of adolescence Benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal torticollis of infancy[sanfordresearch.org] Type Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig Craniotelencephalic Dysplasia Crouzon syndrome Dandy Walker Cyst Dandy Walker Malformation Postaxial Polydactyly[rgd.mcw.edu] […] syndrome Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly[se-atlas.de]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Senior-Løken Syndrome

    A distinction is made between two variants of retinal involvement: 1) Leber congenital amaurosis presents with blindness, nystagmus and nonreactive pupils in infancy.[neocyst.de] Physical examination should consider the presence of the main clinical signs of JSRD (hypotonia, ataxia and breathing abnormalities in infants) and BBS (polydactyly and obesity[orpha.net] Leber congenital amaurosis is a severe retinal dystrophy leading to blindness during infancy, diffuse atypical pigmentation of the retina, nystagmus, and optic disc pallor[symptoma.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Skeletal Dysplasia

    Clinical Characteristics Ocular Features: Lens opacities can be seen in infancy or childhood and may be congenital in onset. Nystagmus has been noted in one patient.[disorders.eyes.arizona.edu] )/short-rib polydactyly syndrome type II (Majewski type) AR or digenic ( NEK1/DYNC2H1) Constricted thoracic cage, polydactyly variably present, cleft palate, major organ ([arupconsult.com] polydactyly with skeletal dysplasia usually indicates short rib polydactyly syndrome, chondrodysplasia punctata, or asphyxiating thoracic dysplasia Treatment and prognosis[radiopaedia.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    Poor suck Delayed myelination Brain atrophy Micrognathia Intellectual disability, mild Failure to thrive Hypoplasia of the ventral pons Increased serum lactate Irritability Nystagmus[mendelian.co] […] syndrome Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly[se-atlas.de] Syndrome 2 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 MELAS Mental Retardation , Autosomal Dominant 20 Mental Retardation , Autosomal Dominant 35[familydiagnosis.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Pallister W Syndrome

    She was also noted to have nystagmus on ophthalmological follow-up. No seizures were reported during follow-up.[nature.com] […] or postaxial polydactyly (Biesecker, 2010).[genedx.com] "Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome?[en.wikipedia.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Kaufman Oculocerebrofacial Syndrome

    growth delay - High vaulted / narrow palate - Long face - Macrostomia / big mouth - Microcornea - Muscle weakness / flaccidity - Myopia - Narrow face - Nystagmus - Philtrum[csbg.cnb.csic.es] While polydactyly may be a coincidental finding, a patient with facial features reminiscent of UBE3B-related features and polydactyly has been described by Gabrielli et al[docksci.com] Lack of specific manifestations in early infancy, together with a changing phenotype. Congenital hypotonia, mental retardation, and microcephaly.[accessanesthesiology.mhmedical.com]

    Missing: Onset of Renal Dysfunction in Early Childhood

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