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2,202 Possible Causes for Mutation in the LMBR1 Gene, Polydactyly, Syndactyly between Adjacent Toes

  • Syndactyly

    A large Jewish Moroccan family presented with apparently autosomal dominant heredity of bilateral thumb polydactyly in hands and feet combined with post-axial polydactyly[ncbi.nlm.nih.gov] 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]

  • Pallister-Hall Syndrome

    Author information 1 Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. skos@gmx.de Abstract We present a preterm-born girl with polydactyly[ncbi.nlm.nih.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] Polydactyly. Postaxial polydactyly may be more common than mesoaxial polydactyly in individuals with PHS.[ncbi.nlm.nih.gov]

    Missing: Mutation in the LMBR1 Gene
  • Syndactyly, Type 4

    Novick, Car***"Polydactyly of the Foot." eMedicin***www.emedicing.com "Polydactyly." Health Library. www.mercksource.com "Polydactyly and Syndactyly."[en.wikibooks.org] Disease-causing mutations are located in intron 5 of LMBR1.[uniprot.org] […] of webbing between adjacent toes.[omicsonline.org]

  • Polydactyly

    Complications Complications related to polydactyly is associated with the surgical intervention for managing polydactyly.[symptoma.com] 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] 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
  • Craniosynostosis Type 3

    […] include holoprosencephaly and associated facial abnormalities, microcephaly, cardiac and renal abnormalities (often enlarged and echogenic kidneys), exomphalos and postaxial polydactyly[sonoworld.com] Polydactyly has been documented.[bredagenetics.com] […] nasal bridge; lateral displacement of inner canthi; ocular and ear defects; and limb anomalies including brachydactyly with partial syndactyly in the hands and preaxial polydactyly[rrnursingschool.biz]

    Missing: Mutation in the LMBR1 Gene
  • Acro-Pectoral Syndrome

    Heterozygotes have preaxial polydactyly in the hindlimbs, while homozygotes also have tibial hemimelia and preaxial polydactyly in the forelimbs.[jmg.bmj.com] 33 HP:0100258 Symptoms via clinical synopsis from OMIM: 58 Skeletal Hands: triphalangeal thumb preaxial polydactyly bifid thumb soft tissue syndactyly between all fingers[malacards.org] […] in the human LMBR1 gene ( C7orf2 ), and we are currently screening for such a mutation in the family we report here.[jmg.bmj.com]

    Missing: Syndactyly between Adjacent Toes
  • Central Polydactyly of Fingers

    MIM 174200) and polydactyly, preaxial IV (MIM 174700) are allelic, autosomal dominant disorders caused by mutations in the GLI3 gene.[ctgt.net] 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] […] syndrome Polydactyly postaxial dental and vertebral Polydactyly postaxial with median cleft of upper lip Polydactyly postaxial Polydactyly preaxial type 1 Polydactyly syndrome[fetalultrasound.com]

    Missing: Syndactyly between Adjacent Toes
  • Kleiner Holmes Syndrome

    Definition : A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[reference.md] […] digit polydactyly; and type 5, polysyndactyly ( 4 , 8 , 11 ).[musculoskeletalkey.com] The technique for postaxial polydactyly is described later. Fig. 26-3 Venn-Watson classification of polydactyly. A, Preaxial polydactyly. B, Postaxial polydactyly.[orthopedia.co]

    Missing: Mutation in the LMBR1 Gene
  • Adactyly of Foot

    Disease Type of connection Adactyly of foot, unilateral Hypoplastic tibiae - postaxial polydactyly Polydactyly of a triphalangeal thumb, bilateral Polydactyly of a triphalangeal[csbg.cnb.csic.es] Disease-causing mutations are located in intron 5 of LMBR1.[uniprot.org] Polydactyly Extra digits. Postaxial Ulnar. Preaxial Radial. Radial deficiency Congenital partial or complete absence of the radius.[docplayer.net]

    Missing: Syndactyly between Adjacent Toes
  • Syndactyly (Feet)

    Novick, Car***"Polydactyly of the Foot." eMedicin***www.emedicing.com "Polydactyly." Health Library. www.mercksource.com "Polydactyly and Syndactyly."[en.wikibooks.org] […] of webbing between adjacent toes.[omicsonline.org] : Postaxial polydactyly (lateral ray) Preaxial polydactyly (medial) Central polydactyly Postaxial polydactyly is the most common form, [6] occurring in 80% of cases, followed[emedicine.medscape.com]

    Missing: Mutation in the LMBR1 Gene

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