–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]

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]

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]

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]

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]

[…] 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]

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]

[…] 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]

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]

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]

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]