Rare Diseases

IRIDA syndrome in short Iron-Refractory Iron Deficiency Anemia (IRIDA) syndrome is a rare autosomal recessive disorder of iron metabolism, marked by hypochromic, microcytic anemia that does not respond to oral iron supplementation and shows only partial improvement with parenteral iron therapy. Synonyms Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal How common …

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CINCA syndrome in short Synonyms Inheritance: Autosomal dominant, Not applicable Age of onset: Infancy, Neonatal How common is CINCA syndrome? What are the symptoms of CINCA syndrome? Very Frequent Symptoms Frequent Symptoms Occasional symptoms Clinical description What causes this condition? How is this condition diagnosed? Differential diagnosis An infectious disease is often suspected at disease onset. CINCA …

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IMAGe syndrome Synonyms Prevalence: <1 / 1 000 000 Inheritance: Autosomal dominant, Autosomal recessive Age of onset: Infancy, Neonatal What are the symptoms of IMAGe syndrome? Very Frequent Symptoms

IHPRF syndrome Synonyms Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal What are the symptoms of IHPRF syndrome? Very frequent symptoms Frequent symptoms Occasional symptoms

ICCA syndrome Synonyms Inheritance: Autosomal dominant Age of onset: Infancy, Neonatal What are the symptoms of ICCA syndrome? Very frequent symptoms Frequent symptoms Occasional symptoms Clinical description What causes ICCA syndrome? How is this condition diagnosed? Differential diagnosis Differential diagnosis includes other paroxysmal dystonias such as Genetic counseling Management and treatment – How is this condition treated? …

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I cell disease in short Synonyms Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Antenatal, Neonatal How common is I cell disease? What causes I cell disease? What are the symptoms of I cell disease? Very frequent symptoms Frequent symptoms Occasional symptoms Rare symptoms Clinical description How is this condition diagnosed? Differential diagnosis Differential …

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De la Chapelle syndrome in short Synonyms of De la Chapelle syndrome Inheritance Autosomal dominant Age of onset Epidemiology – how common is De la Chapelle syndrome? What are the symptoms of De la Chapelle syndrome? Very frequent symptoms Clinical description What causes this condition? Differential diagnosis The main differential diagnoses are NR2F2 gene variants have …

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