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186 Possible Causes for Polydactyly (Major Feature

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  • Patau Syndrome

    The common features of Patau syndrome including the clinical triad (microphthalmia, cleft lip/palate, and polydactyly) and non-cyanotic heart defects were always found in[ncbi.nlm.nih.gov] The remaining 11 patients were born to younger mothers who did not undergo amniocentesis because no major anomalies except for cleft lip/palate were found on prenatal sonograms[ncbi.nlm.nih.gov]

  • Kohlschütter-Tönz Syndrome

    Schaefer E, Lauer J, Durand M, Pelletier V, Obringer C, Claussmann A, Braun JJ, Redin C, Mathis C, Muller J, et al: Mesoaxial polydactyly is a major feature in Bardet-Biedl[u1112.inserm.fr]

  • Hinman Syndrome

    The major clinical features of BBS are rod-cone dystrophy, postaxial polydactyly, central obesity, cognitive impairment, hypogonadism, and renal dysfunction [ Goldstone &[ncbi.nlm.nih.gov] Differential Diagnosis Bardet-Biedl syndrome (BBS) shares some features of Alström syndrome.[ncbi.nlm.nih.gov] A major difference between Alström syndrome and BBS is the timing of the onset of visual problems: in Alström syndrome, visual problems are usually apparent in the first two[ncbi.nlm.nih.gov]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    The clinical expression is variable, but most patients exhibit the majority of these clinical features during the disease course [ 88 – 91 ].[ojrd.biomedcentral.com] Clinical features include obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appear several[ojrd.biomedcentral.com]

  • X-Linked Osteoporosis with Fractures

    […] limb malformations as a major feature Syndrome with limb reduction defects Syndrome with synostosis or other joint formation defect Syndromic X-linked intellectual disability[se-atlas.de] feature Non-rhizomelic chondrodysplasia punctata Non-syndromic limb malformation Non-syndromic limb reduction defect Non-syndromic polydactyly Non-syndromic polydactyly,[se-atlas.de] […] multiplex congenita Nodular neuronal heterotopia Nodulosis-arthropathy-osteolysis syndrome Non-X-linked congenital disorder of glycosylation with intellectual disability as a major[se-atlas.de]

  • Cystic Kidney Disease

    Antenatal ultrasound examination can establish the correct diagnosis by identifying at least two of the major features described.[ijri.org] […] other additional features such as heart defects and cleft lip/palate have also been reported.[els.net] Available from: Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic[ijri.org]

  • Muscular Dystrophy-Dystroglycanopathy Type C7

    […] limb malformations as a major feature Syndrome with limb reduction defects Syndrome with synostosis or other joint formation defect Syndromic X-linked intellectual disability[se-atlas.de] feature Non-rhizomelic chondrodysplasia punctata Non-syndromic limb malformation Non-syndromic limb reduction defect Non-syndromic polydactyly Non-syndromic polydactyly,[se-atlas.de] […] multiplex congenita Nodular neuronal heterotopia Nodulosis-arthropathy-osteolysis syndrome Non-X-linked congenital disorder of glycosylation with intellectual disability as a major[se-atlas.de]

  • Limb-Girdle Muscular Dystrophy Type 1E

    […] limb malformations as a major feature Syndrome with limb reduction defects Syndrome with synostosis or other joint formation defect Syndromic X-linked intellectual disability[se-atlas.de] feature Non-rhizomelic chondrodysplasia punctata Non-syndromic limb malformation Non-syndromic limb reduction defect Non-syndromic polydactyly Non-syndromic polydactyly,[se-atlas.de] […] multiplex congenita Nodular neuronal heterotopia Nodulosis-arthropathy-osteolysis syndrome Non-X-linked congenital disorder of glycosylation with intellectual disability as a major[se-atlas.de]

  • Muscular Dystrophy-Dystroglycanopathy Type C9

    […] limb malformations as a major feature Syndrome with limb reduction defects Syndrome with synostosis or other joint formation defect Syndromic X-linked intellectual disability[se-atlas.de] feature Non-rhizomelic chondrodysplasia punctata Non-syndromic limb malformation Non-syndromic limb reduction defect Non-syndromic polydactyly Non-syndromic polydactyly,[se-atlas.de] […] multiplex congenita Nodular neuronal heterotopia Nodulosis-arthropathy-osteolysis syndrome Non-X-linked congenital disorder of glycosylation with intellectual disability as a major[se-atlas.de]

  • Polydactyly

    […] a major clinical feature.[ncbi.nlm.nih.gov] A genetics consultation is advised if there are any abnormalities of the major organs, craniofacial features or other congenital limb abnormalities on physical examination[dermatologyadvisor.com] In the current report, we present a five-generation Chinese family with non-syndromic pre-axial polydactyly with thumb polydactyly (pre-axial polydactyly type I (PPD-I)) as[ncbi.nlm.nih.gov]

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