Symptoma

Opitz-Reynolds-Fitzgerald Syndrome

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Presentation [ edit ] The syndrome consists of severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids and supernumerary nipples. [en.wikipedia.org]

  • Dysostosis

    –Crouzon (craniofacial dysostosis): Prognathic mandibile, small maxilla –Jervell and Lange-Neilsen: Heart disease (prolonged QT interval) –Pendred: Euthyroid goiter –Oto-palatal-digital: Cleft palate, stubby clubbed digits –Congential aural atresia Prevention [checkorphan.org]

    Homepage Rare diseases Search Search for a rare disease OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome ORPHA:2458 Synonym(s): Opitz-Reynolds-FitzGerald syndrome Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: [orpha.net]

  • Sepsis

    Toxoplasmosis –Lyme disease * Metabolic –Hyperbilirubinemia (kernicterus): Consider phototherapy or exchange transfusion if serum bilirubin 20 mg/dL in newborn –Hypercholesterolemia o Ototoxic medications –Aminoglycoside, gentamicin often needed for perinatal sepsis [checkorphan.org]

  • Broad Thumb

    Symptoms - Opitz Reynolds Fitzgerald syndrome * Short fingers * Broad thumb * Deafness * Long narrow head * Reduced muscle tone Causes - Opitz Reynolds Fitzgerald syndrome * Infections –CMV: Most common intrauterine infection causing hearing loss –Bacterial [checkorphan.org]

  • Short Finger

    Symptoms - Opitz Reynolds Fitzgerald syndrome * Short fingers * Broad thumb * Deafness * Long narrow head * Reduced muscle tone Causes - Opitz Reynolds Fitzgerald syndrome * Infections –CMV: Most common intrauterine infection causing hearing loss –Bacterial [checkorphan.org]

  • Goiter

    Progressive nephritis and hearing loss –Apert (acrocephalosyndactyly): Craniofacial dysostosis –Crouzon (craniofacial dysostosis): Prognathic mandibile, small maxilla –Jervell and Lange-Neilsen: Heart disease (prolonged QT interval) –Pendred: Euthyroid goiter [checkorphan.org]

  • Prognathism

    […] forlock –Usher: Retinitis pigmentosa (totally blind by second to third decade), ataxia, vestibular dysfunction –Alport: Progressive nephritis and hearing loss –Apert (acrocephalosyndactyly): Craniofacial dysostosis –Crouzon (craniofacial dysostosis): Prognathic [checkorphan.org]

  • Heart Disease

    disease (prolonged QT interval) –Pendred: Euthyroid goiter –Oto-palatal-digital: Cleft palate, stubby clubbed digits –Congential aural atresia Prevention - Opitz Reynolds Fitzgerald syndrome Not supplied. [checkorphan.org]

  • Ataxia

    […] mutation is responsible for half of all genetic deafness) o Syndromic hereditary congenital deafness –Waardenburg: Telecanthus, confluent eyebrow, colored irides, white forlock –Usher: Retinitis pigmentosa (totally blind by second to third decade), ataxia [checkorphan.org]

  • Meningism

    Opitz Reynolds Fitzgerald syndrome * Short fingers * Broad thumb * Deafness * Long narrow head * Reduced muscle tone Causes - Opitz Reynolds Fitzgerald syndrome * Infections –CMV: Most common intrauterine infection causing hearing loss –Bacterial meningitis [checkorphan.org]

  • Hypercholesterolemia

    Cataracts, cardiovascular anomalies, retinitis, mental retardation –Congenital syphilis –Toxoplasmosis –Lyme disease * Metabolic –Hyperbilirubinemia (kernicterus): Consider phototherapy or exchange transfusion if serum bilirubin 20 mg/dL in newborn –Hypercholesterolemia [checkorphan.org]

  • Prolonged QT Interval

    QT interval) –Pendred: Euthyroid goiter –Oto-palatal-digital: Cleft palate, stubby clubbed digits –Congential aural atresia Prevention - Opitz Reynolds Fitzgerald syndrome Not supplied. [checkorphan.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment - Opitz Reynolds Fitzgerald syndrome * Identify children with hearing loss early o Treat medically treatable cause, if any –Syphilis (steroids and penicillin), Lyme disease, toxoplasmosis, hypercholesterolemia * Intravenous gancyclovir for congenital [checkorphan.org]

Treatment [ edit ] This section is empty. [en.wikipedia.org]

–Crouzon (craniofacial dysostosis): Prognathic mandibile, small maxilla –Jervell and Lange-Neilsen: Heart disease (prolonged QT interval) –Pendred: Euthyroid goiter –Oto-palatal-digital: Cleft palate, stubby clubbed digits –Congential aural atresia Prognosis [checkorphan.org]

–Crouzon (craniofacial dysostosis): Prognathic mandibile, small maxilla –Jervell and Lange-Neilsen: Heart disease (prolonged QT interval) –Pendred: Euthyroid goiter –Oto-palatal-digital: Cleft palate, stubby clubbed digits –Congential aural atresia Prevention [checkorphan.org]