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1,557 Possible Causes for Holoprosencephaly, Syndactyly between Adjacent Toes, Upturned Nostrils

  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] nostrils with a flat or broad nasal bridge.[ucsdguardian.org] The spectrum of these anomalies is wide, ranging from alobar holoprosencephaly to microforms, such as isolated single central medial incisive, or cleft palate.[atlasgeneticsoncology.org]

  • Chromosome 18p Deletion Syndrome

    At follow-up two years after PDA closure, the boy had developed dysmorphic features, including a full face, low-set ears, a depressed nasal bridge, upturned nostrils, a long[synapse.koreamed.org] We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06Mb at 18p11.32–p11.21 by aCGH using uncultured amniocytes in a pregnancy with fetal holoprosencephaly[agris.fao.org] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Autosomal dominant inheritance 0000006 Clinodactyly Permanent curving of the finger 0030084 Cryptorchidism[rarediseases.info.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Craniosynostosis Type 3

    Examples of these defects include hydrocephalus, holoprosencephaly, multicystic renal dysplasia and severe hydrops.[sonoworld.com] ., holoprosencephaly, microcephaly, shunted hydrocephalus, encephalocele) Exposure of fetus (e.g., valproic acid, phenytoin) Mucopolysaccharidosis (e.g., Hurler’s syndrome[aafp.org] Hematologic disorders Congenital hemolytic icterus Polycythemia vera Sickle cell anemia Thalassemia Iatrogenic disorders Hydrocephalus with shunt Malformations Encephalocele Holoprosencephaly[cincinnatichildrens.org]

    Missing: Upturned Nostrils
  • Ring Chromosome 7

    Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Cafe-au-lait spot 0000957 Esotropia Inward turning cross eyed 0000565 Facial hemangioma 0000329 Genu valgum[rarediseases.info.nih.gov] […] high-resolution mid-prophase G-banding and fluorescence in situ hybridization (FISH) resolving a subband deletion of 7q36.3 associated with the clinical manifestation of holoprosencephaly[ncbi.nlm.nih.gov] Holoprosencephaly (HPE) is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres.[cyberleninka.org]

    Missing: Syndactyly between Adjacent Toes
  • Hypomandibular Faciocranial Dysostosis

    Showing of 33 80%-99% of people have these symptoms Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Aplasia/Hypoplasia[rarediseases.info.nih.gov] Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Synotia Muscular hypotonia Macrocephaly Pectus carinatum Full cheeks Acetabular dysplasia Femoral[mendelian.co] 447637006 6011000124106 MAPADVICE IF CEREBRO-COSTO-MANDIBULAR SYNDROME CHOOSE Q04.9 MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106 MAPRULE IFA 722283003 Agnathia, holoprosencephaly[bioportal.bioontology.org]

    Missing: Syndactyly between Adjacent Toes
  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Depressed[rarediseases.info.nih.gov] […] inversus syndrome Aicardi syndrome Aicardi-Goutières syndrome Albers-Schönberg osteopetrosis Albright hereditary osteodystrophy Allan-Herndon-Dudley syndrome Alobar holoprosencephaly[se-atlas.de] Hypoplasia of the eyebrow Episcleritis Ectropion Panniculitis Hammertoe Trigonocephaly Pyloric stenosis Leukodystrophy Stiff skin Abnormality of cardiovascular system physiology Holoprosencephaly[mendelian.co]

    Missing: Syndactyly between Adjacent Toes
  • Ring Chromosome 1

    […] nose Upturned nostrils [ more ] 0000463 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Cognitive impairment Abnormality of cognition Cognitive[rarediseases.info.nih.gov] 18 include ear and hearing abnormalities, abnormally-developed feet or hands, genital abnormalities in males, an increased risk to develop juvenile rheumatoid arthritis , holoprosencephaly[rarediseases.info.nih.gov] A few severe cases have also been reported in which Chromosome 18 Ring has been associated with holoprosencephaly.[rarediseases.org]

    Missing: Syndactyly between Adjacent Toes
  • Smith Lemli Opitz Syndrome

    Facial anomalies, which include wide and flat nasal bridge, small sized nose with an upturned tip or pug nose, anteverted nostrils, undersized jaw (micrognathia), the ear[syndromespedia.com] The diagnosis of alobar holoprosencephaly was confirmed at 15 weeks of gestation, and cardiac and limb defects were also identified.[ncbi.nlm.nih.gov] Here we present a 24-week fetus with Smith-Lemli-Opitz syndrome (SLOS), alobar holoprosencephaly (HPE) and cyclopia (synophthalmia).[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Crane-Heise Syndrome

    Showing of 20 80%-99% of people have these symptoms Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Aplastic clavicle[rarediseases.info.nih.gov] Syndrome Hersh Podruch Weisskopk Syndrome high pressure neurological syndrome Hittner Hirsch Kreh Syndrome HIV-Associated Lipodystrophy Syndrome Ho Kaufman Mcalister Syndrome Holoprosencephaly[rgd.mcw.edu] […] hirsutism, his, histidase, histidinuria, histiocytic, histiocytoma, histiocytosis, histolytica, histoplasmosis, hla, hnscc, hodgkin, hoepffner, holmes, holmgren, holoacardius, holoprosencephaly[rapsodyonline.eurordis.org]

    Missing: Syndactyly between Adjacent Toes
  • Marshall-Smith Syndrome

    […] tip Upturned nose Upturned nostrils [ more ] 0000463 Bowing of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Failure to thrive Faltering weight Weight[rarediseases.info.nih.gov] Mutism Encephalitis Encephalopathy Epilepsy Ewing Sarkome F : Fragile X-Syndrome Friedrichsche Ataxia G : Glass bone Disease H : Haemangioma Hemiplegia Heart deficiencies Holoprosencephaly[dolphin-therapy.org] Hemorrhage-lntraventricular Grade III, IV Hereditary Sensory & Autonomic Neuropathy Hereditary Sensory Motor Neuropathy (Charcot Marie Tooth Disease) Herrmann syndrome Heterotopias Holoprosencephaly[de.slideshare.net]

    Missing: Syndactyly between Adjacent Toes