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198 Possible Causes for Caused by Mutation in the Paired Box Gene 3, Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD)

Did you mean: Caused by Mutation in the Paired Box Gene 3, Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD

  • Klein-Waardenburg Syndrome

    Mutations in multiple genes cause the various forms of Waardenburg syndrome (WS).[emedicine.medscape.com] Types I and III are caused by mutations in the PAX3 (paired box 3, located on chromosome 2q35) gene.[omicsonline.org] The 6 genes involved in WS are PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin[emedicine.medscape.com]

    Missing: Microcephaly (2-3 SD)
  • Sclerosteosis Type 2

    Poor growth (1 patient), microcephaly (-2 to -3 SD) (in some patients), large fleshy earlobes, hypertelorism, upslanting palpebral fissures, broad nasal bridge and tip, tented[iofbonehealth.org]

    Missing: Caused by Mutation in the Paired Box Gene 3
  • Malpuech Syndrome

    There were five shortened fingers in both hands, all fingers being abnormally widely separated despite partial cutaneous syndactyly of digits 2/3 and 4/5 bilaterally.[slideheaven.com] Three sibs in 1 family had postnatal microcephaly (-2 to -3 SD).[findzebra.com] […] was distinctive because of the involvement of both upper and lower limbs (table 5) and the extensive nature of the cutaneous webbing, which frequently included all digits[jmg.bmj.com]

    Missing: Caused by Mutation in the Paired Box Gene 3
  • Kaufman Oculocerebrofacial Syndrome

    […] was distinctive because of the involvement of both upper and lower limbs (table 5) and the extensive nature of the cutaneous webbing, which frequently included all digits[jmg.bmj.com] Microcephaly is often moderate with OFC -2 to -3 SD; it is not currently known to worsen with age.[ncbi.nlm.nih.gov] The incidence of syndactyly in this patient cohort was 61.5% (table 5), less than the frequency of 79% reported by Thomas et al . 2 However, the syndactyly in many patients[jmg.bmj.com]

    Missing: Caused by Mutation in the Paired Box Gene 3
  • Isolated Agammaglobulinemia

    Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations.[mendelian.co] […] findings: 1. microcephaly 2. typical facial appearance 3. lymphoma, leukaemia 4. serum IgG and IgA more than 2 SD below normal for age 5.[esid.org] Probable Make or female patient with three out of the following five findings: 1. microcephaly 2. typical facial appearance 3. lymphoma, leukemia 4. serum IgG and IgA more[esid.org]

    Missing: Caused by Mutation in the Paired Box Gene 3
  • Saethre-Chotzen Syndrome

    Brachydactyly, broad toes, partial cutaneous syndactyly of digits 2 and 3 of the hand, duplicated distal phalanx of the hallux are also often present.[orpha.net]

    Missing: Caused by Mutation in the Paired Box Gene 3 Microcephaly (2-3 SD)
  • Chromosome 19q13.11 Deletion Syndrome

    This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition[…][books.google.com]

    Missing: Caused by Mutation in the Paired Box Gene 3 Microcephaly (2-3 SD)
  • Congenital Deafness

    Waardenburg's syndrome patients have mutations in the human homologue of Pax-3 paired box gene. Nature 1992; 355 : 635–636. 19.[nature.com] An exonic mutation in HuP2 paired domain gene causes Waardenburg's syndrome. Nature 1992; 355 : 637–638. 18. Tassabehji M, Read AP, Newton VE, Harris R, et al.[nature.com] Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).[nature.com]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Fraser Syndrome

    Commonest anomalies in humans are cryptophthalmos, cutaneous syndactyly of digits, abnormal ears and genitalia, renal agenesis, and congenital heart defects.[ncbi.nlm.nih.gov] An extra finger or toe situated outside the normal fifth digit (postaxial polydactyly) and webbing of the fingers or toes (cutaneous syndactyly) are also symptoms seen in[checkorphan.org] An extra finger or toe situated outside the normal fifth digit (postaxial polydactyly ) and webbing of the fingers or toes (cutaneous syndactyly) are also symptoms seen in[encyclopedia.com]

    Missing: Caused by Mutation in the Paired Box Gene 3 Microcephaly (2-3 SD)
  • Syndactyly (Feet)

    syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia[ebi.ac.uk] Syndactyly [Osseous and/or cutaneous fusion between two adjacent digits] Syndactyly is a relatively common differentiation defect, with an estimated incidence ranging from[rrnursingschool.biz] The physical examination without associated malformations showed: simple cutaneous syndactyly involving only soft tissues with no bony fusion, complete because the entire[omicsonline.org]

    Missing: Caused by Mutation in the Paired Box Gene 3 Microcephaly (2-3 SD)