<unk><unk><unk>  (ePI) with failure to absorb fat is a life-threatening condition. Patients are not only depleted of fats but may also suffer from coagulopathy, rickets,<unk> , and corneal disease as a result of deficiency of fat-soluble vitamins. ePI is a common feature of cystic fibrosis (CF) and occurs in 95% of the patients. The association of ePI and hematologic dysfunction is rarer and has been reported in Shwachman-Bodian-Diamond syndrome (SBDS) and in Pearson syndrome (PS). In CF and SBDS, the<unk>  acinar cells are replaced by fat, whereas in PS the pancreas is atrophic and fibrotic. Hematologic abnormalities are common in patients with SBDS and PS; in SBDS the bone marrow is hypoplastic and fatty, and patients suffer from intermittent deficiency of myeloid lineages and susceptibility to infections, whereas in PS there is typically refractory sideroblastic<unk> , which is usually macrocytic, and the bone marrow has normal cellularity and distinctive vacuolization. PS is caused by a deletion of mitochondrial DNA (mtDNA), and because of changing heteroplasmy, the condition may resolve spontaneously or progress to Kearns-Sayre syndrome (MIM 530000).4,5
Researchers reported a new syndrome characterized by ePI,<unk><unk> , and<unk><unk>  in four patients originating from two families of Arab-Muslim origin.
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Acral dysostosis - dyserythropoiesis
Polycystic kidneys, severe infantile, with tuberous sclerosis
Global developmental delay-osteopenia-ectodermal defect
Choledochal cyst, hand malformation
Osteoporosis -- oculocutaneous -- hypopigmentation syndrome
Anophthalmia-short stature-obesity
X linked mental retardation-precocious puberty-obesity