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27 Possible Causes for Earlobe Pits

  • Chromosome 17p13.1 Deletion Syndrome

    pits Skeletal Pelvis: sacral crease Neoplasia: no cancer despite harboring complete deletions of the tp53 gene[malacards.org] […] hallux short feet Head And Neck Mouth: high-arched palate lips thin corners of mouth downturned Skeletal Limbs: elbow contractures knee contractures Head And Neck Ears: earlobe[malacards.org]

  • Beckwith-Wiedemann Syndrome

    BWS is characterized by a great variety of clinical features, among which are abdominal wall defects, macroglossia, pre- and post-natal gigantism, earlobe pits or creases,[link.springer.com] pits or creases, facial nevus flammeus, hypoglycemia, renal abnormalities and hemihypertrophy (unilateral overgrowth) are frequently seen Patient with Beckwith-Wiedemann[atlasgeneticsoncology.org] These features include macrosomia, hemihypertrophy, macroglossia, facial nevus flammeus, earlobe creases and pits, omphalocele, and organomegaly.[ncbi.nlm.nih.gov]

  • Tympanic Membrane Perforation

    pits, and preauricular tags.[mountsinai.org] The external structures of the ear may aid in diagnosing some conditions by the presence or absence of normal landmarks and abnormal features including: earlobe creases, preauricular[mountsinai.org]

  • Genee-Wiedemann Syndrome

    pits or creases, facial nevus flammeus, hypoglycemia, renal abnormalities and hemihypertrophy (unilateral overgrowth) are frequently seen Patient with Beckwith-Wiedemann[atlasgeneticsoncology.org] Pits or creases in the earlobe or behind the ear. An increased risk of developing certain cancers during childhood (most which can be cured with proper treatment).[chop.edu] […] that occur variably; most prominent is the EMG triad (exomphalos-macroglossia-gigantism): apart from the abdominal wall defects and pre- and postnatal growth abnormalities, earlobe[atlasgeneticsoncology.org]

  • Preauricular Pits

    […] syndromes with characteristic ear anomalies are as follows: Branchiootorenal syndrome (BOR) - Preauricular sinus Beckwith-Wiedemann syndrome - Preauricular sinus with asymmetric earlobes[thehealthscience.com] Associated syndromes Asymmetric earlobes and an abnormally large tongue in addition to pits in front of the ears can be a sign of Beckwith-Wiedemann syndrome.[chop.edu] Preauricular pits in an otherwise normal infant. The mother had the same findings.[rrnursingschool.biz]

  • Thumb Deformity - Alopecia - Pigmentation Anomaly Syndrome

    […] crease/pits, macrosomia, hemihypertrophy, omphalocele, tumor risk (wilms, hepatoblastoma), hypoglycemia Term Definition AR severe platelet dysfunction disorder- mild thrombocytopenia[flashcardmachine.com] […] hypercalciuria, FTT Term Definition aphthous stomatitis, genital ulceration, uveitis; can also see GI ulcers, arthritis Term Beckwith-Wiedemann syndrome Definition macroglossia, earlobe[flashcardmachine.com]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    […] crease/pits, macrosomia, hemihypertrophy, omphalocele, tumor risk (wilms, hepatoblastoma), hypoglycemia Term Definition AR severe platelet dysfunction disorder- mild thrombocytopenia[flashcardmachine.com] […] hypercalciuria, FTT Term Definition aphthous stomatitis, genital ulceration, uveitis; can also see GI ulcers, arthritis Term Beckwith-Wiedemann syndrome Definition macroglossia, earlobe[flashcardmachine.com]

  • Preauricular Sinus or Pit

    […] syndromes with characteristic ear anomalies are as follows: Branchiootorenal syndrome (BOR) - Preauricular sinus Beckwith-Wiedemann syndrome - Preauricular sinus with asymmetric earlobes[thehealthscience.com] Associated syndromes Asymmetric earlobes and an abnormally large tongue in addition to pits in front of the ears can be a sign of Beckwith-Wiedemann syndrome.[chop.edu] Mandibulofacial dysostosis - Auricular pits/fistulas Oculoauriculovertebral dysplasia - Preauricular tags (see the image below) [/i] Multiple tags in a child with oculoauriculovertebral[thehealthscience.com]

  • External Auditory Canal Aplasia/Hypoplasia

    ; preauricular tag; preauricular pit; hypoplasia of external ear canal; hearing loss; reduced mouth opening; micrognathia; slightly proximal placed thumbs - - seizures - Dennis[databases.lovd.nl] 0SD; weight at 3.5y 14.6kg/-0.2SD; 45cm/-3.3SD; moderate ID; walking at 36m; first words at 24m; hyperplastic supraorbital ridges; sloping forehead; microtia with squared earlobe[databases.lovd.nl]

  • Congenital Hemihypertrophy

    […] helical pits), visceromegaly, renal abnormalities, neonatal hypoglycemia, cleft palate, and a positive family history (7) (9) (13) .[edmcasereports.com] BWS is a rare congenital disorder characterized by hemihypertrophy, embryonic tumors, adrenocortical cytomegaly, ear anomalies (anterior linear earlobe creases and posterior[edmcasereports.com]

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