Majeed syndrome

Question 1

What are the symptoms of Majeed syndrome?

Answer 1

Chronic recurrent multifocal osteomyelitis (CRMO)–> Inflammation bone condition

Congenital Dyseythropoietic Anemia–: shortage of RBC (not enough oxygen); fatigue, weakness, pale skin and shortness of breath

Neutrophilic Dermatosis (sweet syndrome)–> inflammation disorder of skin: fever, painful bumps on face, neck, back, and arms

Question 2

What genes are involved in Majeed syndrome?

Answer 2

LPIN2 gene

Question 3

What is the inheritance pattern for Majeed syndrome?

Answer 3

Autosome recessive

Question 4

What is the phenotype of heterozygous in Majeed Syndrome?

Answer 4

They are carriers and typically don’t show symptoms