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2,172 Possible Causes for Hyperconvex Fingernails, Overfolded Superior Helix, Polydactyly

  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] fingernails 0001812 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw[rarediseases.info.nih.gov] , and intellectual disabilities) 759.89 Barth 759.89 basal cell nevus 759.89 Beckwith (-Wiedemann) 759.89 Biedl-Bardet (obesity, polydactyly, and intellectual disabilities[icd9data.com]

  • Patau Syndrome

    A single transverse palmar crease, polydactyly, and hyperconvex narrow fingernails are also common.[merckmanuals.com] 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]

    Missing: Overfolded Superior Helix
  • Lenz-Majewski Syndrome

    fingernails 0001812 Hypogonadism Decreased activity of gonads 0000135 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Kyphosis Hunched[rarediseases.info.nih.gov] […] comparison with other cases of short rib-polydactyl syndromes (SRPS) and other chondrodysplasias, this case was classified as Majewski's syndrome, even though there was no polydactyly[thieme-connect.com] The short-rib polydactyly syndromes (SRPS) have been divided into four types.[mhmedical.com]

    Missing: Overfolded Superior Helix
  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    0100556 Hyperconvex fingernails 0001812 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Inguinal hernia 0000023 Kyphosis Hunched back Round[rarediseases.info.nih.gov] Malonyl-CoA decarboxylase deficiency Malouf syndrome Malpuech facial clefting syndrome Man [ edit ] Mandibuloacral dysplasia Mandibulofacial dysostosis deafness postaxial polydactyly[en.wikipedia.org] fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001812 20 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298 21 arthrogryposis multiplex congenita[malacards.org]

    Missing: Overfolded Superior Helix
  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] […] 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: Hyperconvex Fingernails
  • Adactyly of Foot

    Thin, hypoplastic hyperconvex fingernails.[medigoo.com] 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] Polydactyly Extra digits. Postaxial Ulnar. Preaxial Radial. Radial deficiency Congenital partial or complete absence of the radius.[docplayer.net]

    Missing: Overfolded Superior Helix
  • Branchio-Oculo-Facial Syndrome

    […] with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes[accessanesthesiology.mhmedical.com] This is only the second case where preaxial polydactyly has been described in branchio-oculo-facial syndrome.[ncbi.nlm.nih.gov] She also exhibited a rare feature of preaxial polydactyly. Her brother had a lethal phenotype with multiorgan failure. We also report a novel variant in TFAP2A gene.[ncbi.nlm.nih.gov]

    Missing: Hyperconvex Fingernails
  • Simpson Dysmorphia Syndrome

    fingernails - Umbilical hernia - Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis - Ventricular septal defect / interventricular communication[csbg.cnb.csic.es] 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]

    Missing: Overfolded Superior Helix
  • Wolf-Hirschhorn Syndrome

    Genetic syndromes such as Smith-Lemli-Opitz syndrome, Robinow syndrome, Fraser syndrome, Schprintzen syndrome, short-rib polydactyly syndrome and WHS may be associated with[bmcpregnancychildbirth.biomedcentral.com] The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] […] or postaxial polydactyly (Biesecker, 2010).[genedx.com] "Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome?[en.wikipedia.org]

    Missing: Hyperconvex Fingernails

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