Create issue ticket

1,811 Possible Causes for Genetic Heterogeneity, Polydactyly

  • Meckel Syndrome

    This is the largest and most comprehensive genomic study on MKS in Arabs and the results, in addition to revealing genetic and allelic heterogeneity, suggest that previously[ncbi.nlm.nih.gov] Polydactyly was missed by ultrasound in all seven cases due to the marked oligohydramnion.[ncbi.nlm.nih.gov] Clinical and genetic heterogeneity in Meckel syndrome . Hum Genet. 1997 Nov;101(1):88-92.[disorders.eyes.arizona.edu]

  • Retinitis Pigmentosa

    Hereditary degenerations of the human retina are genetically heterogeneous, with well over 100 genes implicated so far.[ncbi.nlm.nih.gov] The two siblings showed signs of RP and polydactyly.[ncbi.nlm.nih.gov] RP is clinically and genetically heterogeneous disorder.[ncbi.nlm.nih.gov]

  • Cystic Kidney Disease

    For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).[ncbi.nlm.nih.gov] Keywords: Meckel-Gruber syndrome, occipital encephalocele, polycystic kidney, polydactyly How to cite this article: Panduranga C, Kangle R, Badami R, Patil PV.[ruralneuropractice.com] For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). (267010) MalaCards based summary : Meckel Syndrome, Type[malacards.org]

  • Holt Oram Syndrome

    Genetic heterogeneity has been suggested by several reports.[ncbi.nlm.nih.gov] In our case, we observed polydactyly of all the four limbs, clinodactyly, loss of thenar eminence, and ASD.[aeronline.org] The low detection rate is attributed to clinical misdiagnosis and genetic heterogeneity.[ncbi.nlm.nih.gov]

  • Bardet-Biedl Syndrome Type 11

    Homogeneity testing demonstrates genetic heterogeneity within our set of families.[nature.com] Polydactyly-type limb anomalies - these may be the only feature present at birth and are reported in 63-81% of patients.[patient.info] An autosomal recessive form of Bardet-Biedl syndrome (OMIM:209900), a genetically heterogeneous disorder characterised by usually severe pigmentary retinopathy, early-onset[medical-dictionary.thefreedictionary.com]

  • Polydactyly

    Abstract Polydactyly is a clinically and genetically heterogeneous disorder.[ncbi.nlm.nih.gov] Complications Complications related to polydactyly is associated with the surgical intervention for managing polydactyly.[symptoma.com] Cataloging these disorders by phenotype and genotype demonstrates numerous overlapping phenotypes, genetic heterogeneity of phenotypes, and distinct phenotypes generated from[ncbi.nlm.nih.gov]

  • Non-Syndromic Tibial Hemimelia

    Journal of human genetics 54 (7), 382 , 2009 ‏ 46 2009 Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness‏ K Lezirovitz, E Pardono[scholar.google.com.eg] In contrast, the described infants of diabetic mothers had tibial hemimelia and specific proximal hallucal polydactyly, a form of polydactyly that has been described as being[jim.bmj.com] Journal of human genetics 54 (7), 382 , 2009 46 2009 Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness K Lezirovitz, E Pardono[scholar.google.com.br]

  • Laurence Moon Syndrome

    Homogeneity testing demonstrates genetic heterogeneity within our set of families.[nature.com] Figure 2: showing polydactyly in lower limbs Figure 3: showing polydactyly in left hand Figure 4: showing high arched palate.[medresearch.in] Sheffield, Linkage of Bardet–Biedl syndrome to chromosome 16q and evidence for non–allelic genetic heterogeneity, Nature Genetics, 10.1038/ng1293-392, 5, 4, (392-396), (1993[doi.org]

  • Polymicrogyria

    Moreover, linkage analysis allowed excluding all known gene loci, suggesting further genetic heterogeneity.[ncbi.nlm.nih.gov] Macrocephaly and polydactyly of both lower extremities were noted at birth. At 3 months of age, epileptic seizures developed.[ncbi.nlm.nih.gov] Although genetic heterogeneity is documented, only one gene is currently known to cause isolated PMG.[ncbi.nlm.nih.gov]

  • Rubinstein-Taybi Syndrome

    Part of the clinical variability in RSTS is explained by genetic heterogeneity.[ncbi.nlm.nih.gov] Although various malformations are combined with the triad, polydactyly is rare. We treated a male patient with RTS complicated by postaxial polydactyly of the foot.[ncbi.nlm.nih.gov] It could be possible that genetic heterogeneity is related with novel mutations in other genes.[ncbi.nlm.nih.gov]

Further symptoms

Similar symptoms