Create issue ticket

660 Possible Causes for High Inter- and Intrafamiliar Variability of Phenotype, Sensorineural Hearing Loss Associated with ELSTs, Ulnar Hypoplasia

  • CHARGE Syndrome

    CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth[…][en.wikipedia.org]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Von Hippel-Lindau Disease

    ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org] The majority of the patients had associated audiovestibular symptoms, including sensorineural hearing loss (84% of ears), tinnitus (73%), and vertigo (68%) that did not correlate[journal.frontiersin.org] Respiratory Lung: pulmonary hemangiomas Abdomen Pancreas: multiple pancreatic cysts pancreatic hemangioblastoma Head And Neck Ears: vertigo tinnitus endolymphatic sac tumors (elsts[malacards.org]

    Missing: Ulnar Hypoplasia
  • Fitzsimmons-McLachlan-Gilbert Syndrome

    Hofkens Fabry syndrome Fryns smeets thiry syndrome Fu-Fz Fucosidosis type 1 Fucosidosis Fuhrmann Rieger De sousa syndrome Fukuda Miyanomae Nakata syndrome Fukuyama type muscular[bioreference.net] Hofkens Fabry syndrome Fryns smeets thiry syndrome Fu Fucosidosis type 1 Fucosidosis Fuhrmann Rieger De sousa syndrome Fukuda Miyanomae Nakata syndrome Fukuyama type muscular[academickids.com] […] aldolase deficiency, heredita Fructosemia, hereditary Fructosuria Fry Frydman Cohen Ashenazi syndrome Frydman Cohen Karmon syndrome Fryer syndrome Fryns Fabry Remans syndrome Fryns[bionity.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Humero-Radial Synostosis

    The range of anomalies described includes (in addition to humero-radial synostosis) ulnar hypoplasia, patellar hypoplasia, and chronic glomerulo-nephritis.[ncbi.nlm.nih.gov] The hands were normal and there was no radial or ulnar hypoplasia bilaterally. There were no other skeletal abnormalities.[wajradiology.org] Type I involves ulnar hypoplasia, usually is sporadic, and has an elbow usually fixed in extension.[aibolita.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Ulnar Mammary Syndrome

    The father exhibited ulnar hypoplasia and absence of the left fourth and fifth fingers.[ncbi.nlm.nih.gov] This holds true for both aplasia and hypoplasia of the ulnar ray.[rrnursingschool.biz] Karaarslan, Neşe Tükel, Turgut Kayserili, Hülya Apak, Memnune Yüksel Ulnar mammary syndrome UMS is characterized by ulnar limb deficiencies or duplications apocrine mammary[agris.fao.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Postaxial Oligodactyly, Tetramelic

    Hypoplasia with Mental Retardation Upper Extremity Deformities, Congenital VACTERL association Viljoen Kallis Voges Syndrome Weill-Marchesani Syndrome 3 Weyers Acrofacial[crrd.mcw.edu] […] sequence, cleft mandible, hallux hypoplasia, may have ulnar, tibial, fibular hypoplasia Robinow syndrome 268310 180700 AR AD Ulnar hypoplasia, hemivertebrae, brachydactyly[docksci.com] […] disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot syndrome Ulnar-mammary syndrome Ulnar/fibula ray defect-brachydactyly[se-atlas.de]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Humero-Ulnar Synostosis

    Keywords Synostosis Cleft Hand Deficient Ulna Ulnar Hypoplasia These keywords were added by machine and not by the authors.[link.springer.com] The hands were normal and there was no radial or ulnar hypoplasia bilaterally. There were no other skeletal abnormalities.[wajradiology.org] Radiographs showed bilateral humeroradial synostoses without ulnar ray hypoplasia (Fig. 1). There were no humeroulnar articulation synostoses.[semanticscholar.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Radial Hemimelia

    hypoplasia).[jstage.jst.go.jp] Abstract Ulnar hypoplasia is a rare longitudinal limb deficiency in which the ulna shows various degrees of deficiency.[ncbi.nlm.nih.gov] […] disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot syndrome Ulnar-mammary syndrome Ulnar/fibula ray defect-brachydactyly[se-atlas.de]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Facioauriculoradial Dysplasia

    UNCOMMON * May or must have ulnar hypoplasia or absence as well.[gamuts.isradiology.org] […] sequence, cleft mandible, hallux hypoplasia, may have ulnar, tibial, fibular hypoplasia Robinow syndrome 268310 180700 AR AD Ulnar hypoplasia, hemivertebrae, brachydactyly[docksci.com] Richieri-Costa A, Opitz JM (1986): Ulnar ray a/hypoplasia: Evidencefor a developmental field on the basis of genetic heterogeneity. Re-port of three Brazilian families.[docslide.net]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Congenital Longitudinal Deficiency of the Ulna

    Objective: To report two cases with essentially similar phenotypic presentation characterized by unilateral mesomelic shortening of limb, ulnar hypoplasia, and severe deficiency[content.sciendo.com] Bayne classification  I – Ulnar hypoplasia  II – Partial ulnar aplasia  III- Total ulnar aplasia Paley & Herzenberg classification  I – Ulnar hypoplasia with intact distal[slideshare.net] Bayne classification Paley & Herzenberg classification • I – Ulnar hypoplasia • II – Partial ulnar aplasia • III- Total ulnar aplasia • IV – Radiohumeral synostosis • I –[slideshare.net]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs

Similar symptoms