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233 Possible Causes for Bifid Femur, High Inter- and Intrafamiliar Variability of Phenotype, Sensorineural Hearing Loss Associated with ELSTs

  • 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: Bifid Femur
  • Fitzsimmons-McLachlan-Gilbert Syndrome

    bifid with monodactylous ectrodactyly Femur fibula ulna syndrome Fenton Wilkinson Toselano syndrome Ferlini Ragno Calzolari syndrome Fernhoff Blackston Oakley syndrome Ferrocalcinosis[bioreference.net] Richardson syndrome Feigenbaum Bergeron syndrome Feingold syndrome Felty's Syndrome Female pseudohermaphrodism Genuardi type Female pseudohermaphroditism Femoral facial syndrome Femur[bionity.com] […] syndrome Feigenbaum Bergeron syndrome Feingold Trainer syndrome Felty's Syndrome Female pseudohermaphrodism Genuardi type Female pseudohermaphrodism Femoral facial syndrome Femur[bioreference.net]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Tel Hashomer Camptodactyly Syndrome

    Familial occurrence of bifid femur and monodactylous ectrodactyly TR Gollop, E Lucchesi, RMM Martins, AS Nione, JM Optiz American journal of medical genetics 7 (3), 319-322[scholar.google.com]

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

    KEYWORDS: Gollop-Wolfgang complex; Tibia hemimelia; bifid femur[ncbi.nlm.nih.gov] […] but several inherited forms are described – autosomal dominant Multiple Associated Anomalies Split hand & foot Syndactyly Polydactyly Five fingered hand Finger anonychia Bifid[orthofracs.com] , but without hand ectrodactyly, as reported by Bos and Taminiau. 6 The term Gollop-Wolfgang complex is also used in patients with bifid femur and tibial agenesis without[healio.com]

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

    Familial occurrence of bifid femur and monodactylous ectrodactyly. Am. J. Med. Genet. 7: 319-322, 1980. Kohn, G., El Shawwa, R., Grunebaum, M.[med2000eco.it] , but without hand ectrodactyly, as reported by Bos and Taminiau. 6 The term Gollop-Wolfgang complex is also used in patients with bifid femur and tibial agenesis without[healio.com] […] patella, anterior cruciate ligament, and lateral rays of the foot. 6 The current patient appears similar to a patient with bilateral agenesis of the tibia and bifurcated femur[healio.com]

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

    Abstract We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral club feet, congenital heart defects, and segmentation anomalies of the spine and[ncbi.nlm.nih.gov] femur with monodactylous ectrodactyly (MIM.228250) brachydactyly-ectrodactyly with fibular aplasia or fibular hypoplasia (MIM.113310) cleft palate, cardiac defect, genital[humpath.com] femur-monodactylous ectrodactyly ( 7468656 ) association ectrodactyly- tibial hemimelia or tibial aplasia-ectrodactyly syndrome (Gollop-Wolfgang complex) ( 10340652, 8723107[humpath.com]

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

    […] but several inherited forms are described – autosomal dominant Multiple Associated Anomalies Split hand & foot Syndactyly Polydactyly Five fingered hand Finger anonychia Bifid[orthofracs.com] femur with monodactylous ectrodactyly (see Gollop-Wolfgang complex, {228250}) in the other. {4:Lezirovitz et al. (2008)} restudied the large Brazilian family reported by[bio2rdf.org] Erickson RP (2005) Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: possible variants of Gollop-Wolfgang[omicsonline.org]

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

    Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: Possible variants of Gollop-Wolfgang complex.[jemds.com] , but without hand ectrodactyly, as reported by Bos and Taminiau. 6 The term Gollop-Wolfgang complex is also used in patients with bifid femur and tibial agenesis without[healio.com] […] patella, anterior cruciate ligament, and lateral rays of the foot. 6 The current patient appears similar to a patient with bilateral agenesis of the tibia and bifurcated femur[healio.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Partial Monosomy 18q

    Nuijten, Inge * ; Admiraal, Ronald † ; Van Buggenhout, Griet ‡ ; Cremers, Cor † ; Frijns, Jean-Pierre ‡ ; Smeets, Dominique * ; van Ravenswaaij-Arts, Conny * PEDIATRIC OTOLOGY Abstract Author Information Authors To study the occurrence of congenital aural atresia in patients with a deletion of the long arm of[…][journals.lww.com]

    Missing: Bifid Femur Sensorineural Hearing Loss Associated with ELSTs