- Also known as: Burke’s syndrome,
Synonyms: Lipomatosis of pancreas, pancreatic insufficiency and bone marrow dysfunction.
- rare disorder, autosomal recessive, onset of symptoms in infancy.
- exocrine pancreatic
insufficiency (the pancreas being replaced by adipose tissue)
- metaphyseal dysplasia
- long bone trabeculation
- short or flared ribs
- thoracic dystrophy
- Some patients present at birth with
thoracic dystrophy; others have short, flared ribs.
- The metaphyseal dysostosis of the long
bones may not be detectable until
after 12 months of age.
variable hematologic abnormalities, including
- red blood cell hypoplasia
- myelolymphoproliferative disease.
- Other clinical features include
- narrowing of the rib cage
due to involvement of the ribs, musculoskeletal anomalies
- recurrent infections.
cystic fibrosis, it is the most common cause of pancreatic insufficiency in
- Shwachman-Diamond syndrome and Fanconi
anemia share the characteristics of bone marrow dysfunction and growth
failure, but the pancreatic
insufficiency and malabsorption are unique to the Schwachman-Diamond,
and the skeletal anomalies differ.
Several other disorders are associated with
skeletal anomalies and hematologic disease.
- Fanconi's Anemia (no thumb or
- Dyskeratosis Congenita
(skin and nail changes)
- TAR syndrome (thrombocytopenia, absent
radius, thumbs present)
- Bloom syndrome (predisp to leukemia, malignancies)
- Other rare disorders associated with both
skeletal anomalies and hematologic disorders include
- familial aplastic anemia syndromes
- cartilage-hair hypoplasia
- Dubowitz syndrome
- Seckel syndrome
- Poland syndrome
- Acquired disorders also may be associated
with both hematologic and
skeletal abnormalities. Children who have newly diagnosed acute lymphoblastic
leukemia often present with bone pain and generalized radiologic signs, but
they do not have congenital abnormalities.
Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG,
Orkin SH, Oski FA, Ginsburg D, eds. Nathan and Oski's Hematology of
Infancy and Childhood. 5th ed. Philadelphia, Pa: WB Saunders Co; 1998:
Freedman MH. Inherited forms of bone marrow failure. In: Hoffman R,
Benz EJ Jr, Shattil SJ, et al, eds. Hematology: Basic Principles and
Practice. 3rd ed. New York, NY: Churchill Livingstone; 2000:260-297