Synonym(s): - Congenital lipomatosis of pancreas
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic disease - Rare hematologic disease - Rare immune disease - Rare oncologic disease Entire classification		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - See
Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: any age Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
SBDS	Q9Y3A5	607444

- Autosomal recessive inheritance
- Pancreatic failure / exocrine pancreas disease
- Polynuclear cells / neutrophils anomalies / neutropenia
- Structural anomalies of the pancreas

- Delayed bone age
- Eczema
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Ichthyosis / ichthyosiform dermatitis
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocytic anemia
- Malabsorption / chronic diarrhea / steatorrhea
- Metaphyseal anomaly
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Short stature / dwarfism / nanism
- Thrombocytopenia / thrombopenia

- Abnormal gait
- Acute leukemia
- Bone marrow failure / pancytopenia
- Complete / partial microdontia
- Enanthema / aphtosa / aphta / leukoplakia
- Hepatomegaly / liver enlargement (excluding storage disease)
- Insulin-dependent / type 1 diabetes
- Multiple caries
- Myeloproliferative syndrome / chronic leukemia
- Pectus carinatum
- Scoliosis
- Short rib cage / thorax