Schimke Immuno-Osseous Dysplasia

 

 

Patients have a broad nasal bridge and bulbous nasal tip.  Other features of this disease include IUGR, short stature, spondyloepiphyseal dysplasia, and progressive renal failure.  The immunodeficiency is characterized by T cell lymphopenia, reduced mitogen proliferation, normal B cell numbers, and reduced immunoglobulin levels (variable).  

 

 

Schimke Immuno-Osseous Dysplasia