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2,388 Possible Causes for Hyperconvex Fingernails, Multiple Congenital Anomalies, Overfolded Superior Helix

  • Wolf-Hirschhorn Syndrome

    The present case shows that not only deletions but also duplications of the Wolf-Hirshhorn critical region cause mental retardation and multiple congenital anomalies.[ncbi.nlm.nih.gov] anomaly syndromes.[ncbi.nlm.nih.gov] We report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Coffin-Lowry Syndrome

    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] superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] CONGENITE MULTIPLE CON RITARDO MENTALE RP0040 SINDROME ALCOLICA FETALE[webalice.it]

  • 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] congenital anomalies, mental retardation and progressive skeletal sclerosis Statements Identifiers Sitelinks Wikipedia (3 entries) edit Wikibooks (0 entries) edit Wikiquote[wikidata.org] Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive[accessanesthesiology.mhmedical.com]

    Missing: Overfolded Superior Helix
  • Patau Syndrome

    A single transverse palmar crease, polydactyly, and hyperconvex narrow fingernails are also common.[merckmanuals.com] Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies.[ncbi.nlm.nih.gov] congenital anomalies.[genome.jp]

    Missing: Overfolded Superior Helix
  • Turner Syndrome

    fingernails 0001812 Hyperinsulinemia 0000842 Hyperlipidemia Elevated lipids in blood 0003077 Inverted nipples 0003186 Lymphedema Swelling caused by excess lymph fluid under[rarediseases.info.nih.gov] Cardiovascular anomalies are common and the most clinically frequent is coarctation of the aorta.[magicfoundation.org] Fingernails and toenails may be narrow, hyperconvex, and/or deep-set.[medicalhomeportal.org]

    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] Multiple chemical sensitivity Multiple congenital anomalies mental retardation, growth failure and cleft lip palate[?] Multiple congenital contractures[?][encyclopedia.kids.net.au] 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
  • Simpson Dysmorphia Syndrome

    fingernails - Umbilical hernia - Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis - Ventricular septal defect / interventricular communication[csbg.cnb.csic.es] […] and, in more severe cases, multiple congenital anomalies and mental retardation.[ncbi.nlm.nih.gov] congenital anomalies, and early death ("MCAHS2"), (ii) neurodegenerative encephalopathy with systemic iron overload (ferro-cerebro-cutaneous syndrome, "FCCS"), and (iii)[zora.uzh.ch]

    Missing: Overfolded Superior Helix
  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    fingernails Diaphyseal thickening Subcortical cerebral atrophy Abnormal palate morphology Abnormality of the hip bone Spinal dysraphism Limited elbow extension Short thorax[mendelian.co] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com] While several multiple congenital anomalies (MCA) syndromes include both skeletal dysplasia and immune deficiency, the striking combination of congenital anomalies presented[jmg.bmj.com]

    Missing: Overfolded Superior Helix
  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS 748.3 Other anomalies of larynx, trachea, and bronchus, Absence or agenesis of[genedx.com] Abstract Cytogenetic analysis in a girl with multiple congenital anomalies indicating Pallister-Killian syndrome (PKS) showed a supernumerary marker chromosome in 1/76 lymphocytes[nature.com]

    Missing: Hyperconvex Fingernails
  • Winchester Syndrome

    This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.de] Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple[books.google.de]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix