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2,319 Possible Causes for Buccal Frenulae, Polydactyly, Umbilical Plaque

  • Smith Lemli Opitz Syndrome

    These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov] , sex reversal, renal hypoplasia, and unilobular lung Rsh Syndrome Lethal Acrodysgenital Syndrome Slo Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung[wikidata.org]

  • Simpson Dysmorphia Syndrome

    frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org] We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance.[ncbi.nlm.nih.gov] Bulldog" or "coarse" face (protruding jaw and tongue, widened nasal bridge, upturned nasal tip) Hands and feet are short and broad with dysplatic nails Cutaneous syndactyly Polydactyly[en.wikipedia.org]

  • Patau Syndrome

    Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly[ncbi.nlm.nih.gov] Cleft lip/palate, micro- or anophthalmia, coloboma (even in the absence of major brain malformations), regions of occipital cutaneous aplasia, postaxial polydactyly, cardiac[orpha.net] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[icd9data.com]

    Missing: Buccal Frenulae
  • Acrocallosal Syndrome

    Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes.[ncbi.nlm.nih.gov] […] degree cousins and their first pregnancy resulted in spontaneous abortion whereas the offspring of their second pregnancy was an anencephalic baby with bilateral post-axial polydactyly[ncbi.nlm.nih.gov] We report on a girl with frontonasal "dysostosis," callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet.[ncbi.nlm.nih.gov]

    Missing: Buccal Frenulae
  • Jeune Syndrome

    polydactyly syndrome (SRPS), type Majewski.[ncbi.nlm.nih.gov] […] asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly[ncbi.nlm.nih.gov] From Wikidata Jump to navigation Jump to search human disease asphyxiating thoracic dystrophy Jeune syndrome short-rib thoracic dysplasia with or without polydactyly thoracic[wikidata.org]

    Missing: Buccal Frenulae
  • Orofaciodigital Syndrome Type 7

    frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[doi.org] […] syndrome, polydactyly with neonatal chondrodystrophy, type i, short rib-polydactyly syndrome, type iii;srps3, verma-naumoff syndrome, polydactyly with neonatal chondrodystrophy[mendelian.co] [Hereditary abnormality of the buccal mucosa: abnormal bands and frenula]. Revue Stomatol. 1954 Apr;55(4):209-27. Undetermined Language. (3.)[aprendeenlinea.udea.edu.co]

  • Pallister-Hall Syndrome

    frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com] 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] Polydactyly. Postaxial polydactyly may be more common than mesoaxial polydactyly in individuals with PHS.[ncbi.nlm.nih.gov]

    Missing: Umbilical Plaque
  • Baraitser-Winter Syndrome 1

    […] type 5 with or without polydactyly WDR19 Short-rib thoracic dysplasia type 6 with or without polydactyly NEK1 Short-rib thoracic dysplasia type 7 with or without polydactyly[centogene.com] Expansion of the clinical spectrum of ACTB -associated BRWS The malformation spectrum of BRWS should be extended to include congenital pterygia, abdominal anomalies and preaxial polydactyly[ncbi.nlm.nih.gov] WDR35 Short-rib thoracic dysplasia type 8 with or without polydactyly WDR60 Short-rib thoracic dysplasia type 10 with or without polydactyly IFT172 Short-rib thoracic dysplasia[centogene.com]

    Missing: Buccal Frenulae
  • Fetal Hydantoin Syndrome

    This seems to be the first FHS case in the literature with polydactyly.[ncbi.nlm.nih.gov] 点状軟骨異形成症:chondrodysplasia punctata L-19 Langer 中間肢異形成症:Langer mesomelic dysplasia L-20 Jeune症候群:Jeune syndrome L-21 14番染色体父性片親性ダイソミー:paternal UPD L-22 短肋骨多指症候群:short rib polydactyly[nankodo.co.jp] However, the patient did not have the distal phalangeal hypoplasia which is associated with FHS; instead, she had polydactyly of the right foot.[ncbi.nlm.nih.gov]

    Missing: Buccal Frenulae
  • Lytic Bone Lesion

    Absence of tibia with polydactyly[?] Absent corpus callosum cataract immunodeficiency[?] Absent T lymphocytes[?] Acalvaria[?] Acanthocheilonemiasis[?][encyclopedia.kids.net.au] […] neoplasms Aberrant subclavian artery Ablepharon macrostomia syndrome Abnormal systemic venous return Abruzzo Erickson syndrome Absence of Gluteal muscle Absence of tibia with polydactyly[wikidoc.org] […] subclavian artery Ablepharon macrostomia syndrome Ablutophobia Abnormal systemic venous return Abruzzo Erickson syndrome Absence of Gluteal muscle Absence of tibia with polydactyly[starrepublic.org]

    Missing: Buccal Frenulae

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