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1,679 Possible Causes for Absent Pulp Chambers, De Novo Mutation Identified in Some Patients, Low Set Ears

  • SHORT Syndrome

    Another related syndrome "familial otodentodysplasia" is characterized by the posterior teeth with abnormal morphology, large pulp chambers, short root length compared to[indjos.com] set ears, small teeth, and small nose).[icd10data.com] Note low set, posteriorly rotated, and abnormally formed ear. [6] Heart [ edit ] Up to 85% of people with NS have one of these heart defects: Pulmonary valvular stenosis ([en.wikipedia.org]

  • Smith-Magenis Syndrome

    ears, and brachydactyly.[link.springer.com] In addition, secondary teeth, particularly premolars, might be absent while the other teeth might display enlarged pulp chambers and reduced roots (taurodauntism).[symptoma.com] Craniofacial and skeletal abnormalities are common, including brachycephaly, broad nasal bridge, flat midface, tented upper lip, synophrys, hypertelorism, abnormally shaped or low-set[link.springer.com]

    Missing: De Novo Mutation Identified in Some Patients
  • Wiedemann-Steiner Syndrome

    Here, we identify six novel KMT2A mutations in six WSS patients, with four mutations occurring de novo.[ncbi.nlm.nih.gov] Diseases related with Low-set ears and Gait disturbance In the following list you will find some of the most common rare diseases related to Low-set ears and Gait disturbance[mendelian.co] ears Low set ears Lowset ears [ more ] 0000369 Narrow palpebral fissure Small opening between the eyelids 0045025 Short middle phalanx of finger Short middle bone of finger[rarediseases.info.nih.gov]

    Missing: Absent Pulp Chambers
  • X-Linked Mandibulofacial Dysostosis

    chambers, Pulp obliteration occurs after eruption, Roots of permanent and primary teeth are normal shape and length, Permanent teeth - pulp chambers are abnormally large,[quizlet.com] ears Low set ears Lowset ears [ more ] 0000369 Specific learning disability 0001328 X-linked inheritance 0001417 Showing of 29 Last updated: 5/1/2019 If you need medical[rarediseases.info.nih.gov] UNK DiGeorge syndrome chromosome region CATCH22 22q11 188400 DiGeorge syndrome 188400 AD low-set ears, short ears, small mouth, submucous or overt palatal cleft, cleft lip[widesmiles2.org]

    Missing: De Novo Mutation Identified in Some Patients
  • Turner Syndrome

    Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[web.archive.org]

    Missing: Absent Pulp Chambers De Novo Mutation Identified in Some Patients
  • Hallermann-Streiff Syndrome

    We describe a 20-year-old female patient whose clinical findings mostly fall into this syndrome, except for the presence of slightly low-set ears.[ncbi.nlm.nih.gov] View map Stories of Hallermann Streiff Syndrome HALLERMANN STREIFF SYNDROME STORIES VIEWS BY SURPRISE normal pregnancy. normal birth. due to low set ears and big forhead recommended[diseasemaps.org] ears Low set ears Lowset ears [ more ] 0000369 Metaphyseal widening Broad wide portion of long bone 0003016 Narrow nose Decreased nasal breadth Decreased nasal width Thin[rarediseases.info.nih.gov]

    Missing: Absent Pulp Chambers De Novo Mutation Identified in Some Patients
  • Mandibulofacial Dysostosis

    An exam of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Cleft palate or lip Small jaw Low-set ears Abnormally formed ears Abnormal[medlineplus.gov]

    Missing: Absent Pulp Chambers De Novo Mutation Identified in Some Patients
  • Patau Syndrome

    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] Cutis aplasia (missing portion of the skin/hair) Prominent heel Microcephaly Low-set ears Cleft palate or hare lip Collection Procedure • Amniotic fluid Discard the first[cytogenx.com] Other birth defects of trisomy 13 include: Clenched hands Cleft lip or palate Extra fingers or toes (polydactyly) Hernias Kidney, wrist, or scalp problems Low-set ears Small[webmd.com]

    Missing: Absent Pulp Chambers De Novo Mutation Identified in Some Patients
  • CHARGE Syndrome

    Ear abnormalities and deafness – most children with CHARGE syndrome have some level of hearing impairment, varying from mild to profound, along with underdeveloped or low-set[gosh.nhs.uk] The most common external ear anomalies include low-set ears, asymmetric ears, or small or absent ear lobes. The degree of hearing loss varies from mild to severe.[encyclopedia.com] These may include: a square-shaped face facial asymmetry, a difference in the appearance between the right and left sides of the face low-set and abnormal appearing ears antimongoloid[symptoma.com]

    Missing: Absent Pulp Chambers De Novo Mutation Identified in Some Patients
  • Down Syndrome

    […] variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set[icd9data.com] […] syndrome there is a level of cognitive impairment, as well as the characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set[symptoma.com] Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin[britannica.com]

    Missing: Absent Pulp Chambers De Novo Mutation Identified in Some Patients

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