GTR Home > Conditions/Phenotypes > Majeed syndrome

Disease characteristics

Excerpted from the GeneReview: Majeed Syndrome
Majeed syndrome is characterized by: Chronic recurrent multifocal osteomyelitis (CRMO) that is of early onset with a lifelong course; and Congenital dyserythropoietic anemia (CDA) that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion dependent. Some individuals also develop a transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration).

Available tests

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Associated genes

Clinical features

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  • Hematuria
  • Proteinuria
  • Splenomegaly
  • Pustule
  • Leukocytosis
  • Arthralgia
  • Bone pain
  • Malabsorption
  • Myalgia
  • Vasculitis
  • Abnormality of the metaphyses
  • Edema
  • Skin rash
  • Acne
  • Arthritis
  • Flexion contracture
  • Weight loss
  • Microcytic anemia
  • Migraine
  • Pulmonary infiltrates
  • Hepatomegaly
  • Osteomyelitis
  • Recurrent fractures
  • Abnormality of bone mineral density
  • Abnormality of temperature regulation
  • Abnormal blistering of the skin
  • Inflammatory abnormality of the eye
  • Hyperostosis
  • Glomerulopathy
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