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15 Possible Causes for Mutation in the TWIST Transcription Factor Gene, Partial Syndactyly of Fingers and Toes

  • Saethre-Chotzen Syndrome

    Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the[ncbi.nlm.nih.gov] […] in the TWIST transcription factor gene on chromosome 7p.[medical-dictionary.thefreedictionary.com] […] skin syndactyly between the finger) and the patients demonstrated triangular hypertrophied great toes with valgus deformity (contrary to Pfeiffer syndrome).[ncbi.nlm.nih.gov]

  • Familial Scaphocephaly Syndrome

    Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits.[ab-y-ss.com] Cytogenetic deletions and translocations involving 7p21.1 and various heterozygous mutations in the human/mouse gene symbols for a transcription factor originally named in[ommbid.mhmedical.com] APRS is a syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia.[abcam.com]

  • Patel-Bixler Syndrome

    syndactyly of fingers and toes.[ncbi.nlm.nih.gov] […] and craniosynostosis (Boston-type) arise from mutations in the Twist and muscle segment homeobox 2 (MSX2) transcription factors, respectively.[ncbi.nlm.nih.gov] […] and oral abnormalities.[ 7, 8 ] Pfeiffer syndrome : The patients have hypertelorism, maxillary hypoplasia, mandibular prognathism, and turribrachycephaly.[ 1, 9 ] There is partial[ncbi.nlm.nih.gov]

  • Craniosytosis Type 4

    Some have partial syndactyly between the first and second toes and fingers. Children with this syndrome usually have normal intelligence. Saethre-Chotzen syndrome .[facesofchildren.org] Cytogenetic deletions and translocations involving 7p21.1 and various heterozygous mutations in the human/mouse gene symbols for a transcription factor originally named in[ommbid.mhmedical.com] .  Cutaneous syndactyly, usually partial, frequently occurs and involves the second and third fingers and/or the third and fourth toes [44].[slideshare.net]

  • Apert Syndrome

    Other signs were represented by syndactyly involving partial fusion of the fingers and toes. Also, mild mental deficiency was recorded.[ncbi.nlm.nih.gov] gene called transcription factor TWIST.[sickkids.ca] Apert syndrome is also characterized by partial to complete fusion (syndactyly) of certain fingers and toes (digits).[rarediseases.org]

  • Craniosynostosis

    Some have partial syndactyly between the first and second toes and fingers. Children with this syndrome usually have normal intelligence. Saethre-Chotzen syndrome .[facesofchildren.org] Cytogenetic deletions and translocations involving 7p21.1 and various heterozygous mutations in the human/mouse gene symbols for a transcription factor originally named in[ommbid.mhmedical.com] factor gene TWIST is thought to decrease the function of FGFR, thus also indirectly regulating fetal bone growth. [6] A relation between the mutations in these genes and[en.wikipedia.org]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Pfieffer Syndrome The combination of craniosynostosis, broad thumbs and toes, and partial soft tissue syndactyly of the fingers and toes was described by Rudolf Pfieffer 86[entokey.com] In the case of Saethre-Chotzen syndrome, linkage analysis mapped the disease locus to 7p21–22. 95 , 96 A basic helix-loop–helix transcription factor called TWIST had been[entokey.com] […] hip mobility. 15 , 74 , 79 , 82 , 83 , 84 , 85 Preaxial polysyndactyly of the feet, soft tissue syndactyly of the hands, and brachydactyly and duplication of the second toe[entokey.com]

  • Robinow-Sorauf Syndrome

    […] skin syndactyly between the finger) and the patients demonstrated triangular hypertrophied great toes with valgus deformity (contrary to Pfeiffer syndrome).[ijdentistry.com] TWIST1 encodes a helix-loop-helix transcription factor (Twist-related protein 1) whose downstream targets include fibroblast growth factor receptors, RUNX2 and osteoblast[ctgt.net] Recently, mutations in the gene TWIST have been identified in patients with Saethre-Chotzen syndrome. 10-12 The gene is localised on chromosome 7p21 and encodes a transcription[jmg.bmj.com]

  • Syndactyly Type 3

    In Saethre-Chotzen syndrome (acrocephalosyndactyly type III, OMIM 101400), partial cutaneous syndactyly of fingers 2 and 3 and toes 3 and 4 is typical.[rrnursingschool.biz] Cytogenetic deletions and translocations involving 7p21.1 and various heterozygous mutations in the human/mouse gene symbols for a transcription factor originally named in[ommbid.mhmedical.com] In early human fetal development, webbing (syndactyly) of the toes and fingers is normal.[en.wikipedia.org]

  • Eyebrow Duplication - Syndactyly Syndrome

    […] skin syndactyly between the finger) and the patients demonstrated triangular hypertrophied great toes with valgus deformity (contrary to Pfeiffer syndrome).[ijdentistry.com] : long eyelashes partial duplication of eyebrows excess forehead hair Limbs: syndactyly of second to fourth fingers syndactyly of second and third toes hypermobility of interphalangeal[malacards.org] Mutations of TWIST gene, which maps to 7p21.3 and encodes a basic helix-loop-helix motif shared by several DNA-binding transcription factors, have been identified in 46-80%[ijdentistry.com]

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