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21 Possible Causes for Mutation in the LMBR1 Gene, Syndactyly between Adjacent Toes

  • 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
  • Syndactyly

    Type III results from mutation in the gene encoding GJA1. Mutations in gene that encodes for LMBR1 caused type IV.[symptoma.com] Clinical Information A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[icd9data.com] Analysis of three candidate genes, LMBR1, SHH and ZRS, failed to identify any pathogenic mutations.[dx.doi.org]

  • Syndactyly, Type 4

    […] of webbing between adjacent toes.[omicsonline.org] Disease-causing mutations are located in intron 5 of LMBR1.[uniprot.org] It may involve fusion of the soft tissues with or without bony fusion; cutaneous syndactyly of the toes is soft-tissue continuity in the anterior/posterior axis between adjacent[omicsonline.org]

  • Acro-Pectoral Syndrome

    […] in the human LMBR1 gene ( C7orf2 ), and we are currently screening for such a mutation in the family we report here.[doi.org] Note added in proof A homozygous loss of function mutation in LMBR1 has now been shown to be responsible for the congenital limb malformation acheiropodia, confirming the[doi.org] , rather than a regulatory mutation in Shh, as originally proposed. 19 These exciting new findings strongly suggest that PPD2/3 and TPT-PS are caused by regulatory mutations[doi.org]

    Missing: Syndactyly between Adjacent Toes
  • Polydactyly

    A number of mutations of the LMBR1 gene, in dogs, humans, and mice, can cause polydactyly.[en.wikipedia.org] 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] However, no mutations were identified within the coding region of LMBR1 ( H eus et al. 1999 ).[doi.org]

    Missing: Syndactyly between Adjacent Toes
  • Central Polydactyly of Fingers

    不僅是人類,狗與鼠等動物也可發生多指異常,根據研究指出,多指異常與LMBR1 gene突變有關(A number of mutations of the LMBR1 gene, in dogs, humans, and mice, can cause polydactyly)。[doctor.get.com.tw]

    Missing: Syndactyly between Adjacent Toes
  • Pallister-Hall Syndrome

    ) 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
  • Kleiner Holmes Syndrome

    Definition : A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[reference.md] 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
  • Adactyly of Foot

    Disease-causing mutations are located in intron 5 of LMBR1.[uniprot.org] See also OMIM:200500 Syndactyly 4 (SDTY4) The disease is caused by mutations affecting the gene represented in this entry.[uniprot.org] See also OMIM:188740 Laurin-Sandrow syndrome (LSS) The disease is caused by mutations affecting the gene represented in this entry.[uniprot.org]

    Missing: Syndactyly between Adjacent Toes
  • Syndactyly (Feet)

    […] 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] It may involve fusion of the soft tissues with or without bony fusion; cutaneous syndactyly of the toes is soft-tissue continuity in the anterior/posterior axis between adjacent[omicsonline.org]

    Missing: Mutation in the LMBR1 Gene

Further symptoms