Emberger syndrome

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Editor-In-Chief: Prab R Tumpati, MD
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Emberger syndrome
Autosomal dominant - en.svg
Synonyms Lymphedema with myelodysplasia
Pronounce
Specialty Medical genetics
Symptoms Lymphedema, myelodysplasia, hearing loss, immune deficiency
Complications N/A
Onset Childhood
Duration Lifelong
Types N/A
Causes Mutations in the GATA2 gene
Risks Family history of the condition
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis Noonan syndrome, Turner syndrome, other causes of lymphedema
Prevention N/A
Treatment Symptomatic management, hematopoietic stem cell transplantation
Medication
Prognosis Variable, depends on severity of symptoms
Frequency Rare
Deaths


  1. REDIRECT Deafness-lymphedema-leukemia syndrome.

NIH genetic and rare disease info[edit source]

Emberger syndrome is a rare disease.


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