Shwachman-Diamond syndrome
MeSH: D000081003ORPHA: 811
Overview
syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Shwachman-Diamond syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormality of the skeletal systemExocrine pancreatic insufficiencyAbnormality of blood and blood-forming tissuesDecreased total neutrophil countAnemiaFat malabsorptionAbnormality of the gastrointestinal tractAtypical behaviorFailure to thriveGrowth delayThrombocytopeniaNormocytic anemiaMacrocytic anemiaSteatorrheaPancreatic hypoplasiaDelayed skeletal maturationMyelodysplasiaShort statureMalnutritionReduced circulating vitamin A concentrationIncreased mean corpuscular volumeDecreased circulating vitamin K concentrationIncreased serum bile acid concentrationImpaired neutrophil chemotaxisDecreased circulating vitamin D concentrationDecreased circulating vitamin E concentrationPersistently decreased total neutrophil countTransiently decreased total neutrophil countHypoamylasemiaSinusitisCarious teethAutistic behaviorShort attention spanDeformed rib cageOsteopeniaSkin rashIntellectual disabilityAbnormal joint morphologyAbnormal heart morphologyPancytopeniaDecreased total leukocyte countLeukemiaAplastic anemiaPneumoniaRecurrent bacterial infectionsVertebral compression fractureMetaphyseal wideningMetaphyseal irregularityRecurrent viral infectionsAcute myeloid leukemiaBone marrow hypocellularityMetaphyseal chondrodysplasiaAbnormality of the thoracic cavityOral ulcerAbnormality of the outer earHearing impairmentDelayed eruption of teethDiabetes mellitusDecreased response to growth hormone stimulation testEczematoid dermatitisAbnormal finger morphologyHepatomegalyImmunodeficiencyOsteomyelitisElevated circulating hepatic transaminase concentrationProximal femoral epiphysiolysisIchthyosisHypopituitarismSepsis
Classification & Codes
MeSH Code
D000081003Orphanet Code
ORPHA:811Shwachman-Diamond syndrome
| MeSH | D000081003 |
| Orphanet | ORPHA:811 |
| Treatments | 0 drug(s) |
| Symptoms on record | 69 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO