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156 Possible Causes for Mutation in the LMBR1 Gene, Pre- or Postaxial Polydactyly, Syndactyly between Adjacent Toes

  • Syndactyly, Type 4

    Disease-causing mutations are located in intron 5 of LMBR1.[uniprot.org] - and postaxial polydactyly or postaxial polydactyly type A (OMIM 174200), and still others manifesting a severe phenotype consistent with homozygosity (Akarsu et al. 1995[rrnursingschool.biz] […] of webbing between adjacent toes.[omicsonline.org]

  • Craniosynostosis Type 3

    BACKGROUND: Though the foramen magnum (FM) is often altered in complex craniosynostosis, no study analysed the FM dimensions in patients with brachycephaly specifically. PATIENTS AND METHODS: We measured the FM area, sagittal and transverse diameters on preoperative CT scans in patients with bicoronal synostosis[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the LMBR1 Gene Pre- or Postaxial Polydactyly
  • Syndactyly

    Clinical Information A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[icd9data.com] Type III results from mutation in the gene encoding GJA1. Mutations in gene that encodes for LMBR1 caused type IV.[symptoma.com] Definition (MSH) A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[fpnotebook.com]

    Missing: Pre- or Postaxial Polydactyly
  • Acrocallosal Syndrome

    The main manifestations of the syndrome are unusual facial appearance, pre- and postaxial polydactyly, mental retardation, and absence of the corpus callosum.[ncbi.nlm.nih.gov] Acrocallosal syndrome (ACS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and postaxial polydactyly, minor craniofacial anomalies[ncbi.nlm.nih.gov] ‐ and postaxial polydactyly, and, in most patients, moderate to severe psychomotor retardation with hypotonia ( 1 ), first described by Schinzel ( 2 ).[deepdyve.com]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Syndactyly (Feet)

    - and postaxial polydactyly or postaxial polydactyly type A (OMIM 174200), and still others manifesting a severe phenotype consistent with homozygosity (Akarsu et al. 1995[rrnursingschool.biz] […] of webbing between adjacent toes.[omicsonline.org] [syn- G. daktylos, finger or toe] syndactyly /syn·dac·ty·ly/ ( -dak tĭ-le ) persistence of webbing between adjacent digits of the hand or foot, so that they are more or less[medical-dictionary.thefreedictionary.com]

    Missing: Mutation in the LMBR1 Gene
  • Pallister-Hall Syndrome

    Polydactyly of hands is usually postaxial, whereas there may be pre-axial polydactyly of the feet.[genome.gov] ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] […] and optic nerve problems, among other symptoms Hypopituitarism (a condition in which the pituitary gland underproduces certain hormones) Polydactyly (extra fingers and/or toes[brighthub.com]

    Missing: Mutation in the LMBR1 Gene
  • Polydactyly

    A number of mutations of the LMBR1 gene, in dogs, humans, and mice, can cause polydactyly. [67] A 2014 report indicated that mice could also exhibit polydactyly arising from[en.wikipedia.org] Polydactyly and polysyndactyly of both pre- and postaxial types are usually present. Most neonates with SRPS type II do not live beyond infancy.[disorders.eyes.arizona.edu] The hemimelic extra toes ( Hx ) mutation has a similar phenotype to Ssq ( 19 ) and a critical region that includes Lmbr1 and the downstream Rnf32 gene.[doi.org]

    Missing: Syndactyly between Adjacent Toes
  • Syndactyly Type 3

    Definition (MSH) A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[fpnotebook.com] […] intron 5 of the LMBR1 gene.[link.springer.com] - and postaxial polydactyly or postaxial polydactyly type A (OMIM 174200), and still others manifesting a severe phenotype consistent with homozygosity (Akarsu et al. 1995[rrnursingschool.biz]

  • Kleiner Holmes Syndrome

    Definition : A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[reference.md] It is characterized by micromelia, short ribs, hypoplastic thorax, polydactyly (pre- and postaxial), and multiple anomalies of major organs.[ijri.org] Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex.[reference.md]

    Missing: Mutation in the LMBR1 Gene
  • Frontonasal Dysplasia

    A case of frontonasal dysplasia with coronal synostosis, pre- and postaxial polydactyly and longitudinally split nails is described.[ncbi.nlm.nih.gov] European journal of cancer care. (1997) [ Pubmed ] Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant[wikigenes.org] Kwee ML, Lindhout D : Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance[nature.com]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes