Description

Majeed is a rare genetic disorder that has affected families in the Middle East.


Chromosome: 18p11.31

Gene affected: LPIN2

Inheritance: autosomal recessive

 

Clinical findings:

(1) chronic recurrent multifocal osteomyelitis (CRMO)

(2) congenital dyserythropoietic anemia with hypochromic, microcytic anemia

(3) variable inflammatory dermatosis including Sweet's syndrome

(4) short stature as an adult

(5) variable transient cholestatic jaundice in the neonatal period

 

Complications:

(1) disuse atrophy of muscles

(2) contractures


To read more or access our algorithms and calculators, please log in or register.