cystic fibrosis-gastritis-megaloblastic anemia syndrome
ICD-10: E84.9MeSH: C537039ORPHA: 2575
Overview
, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.
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 cystic fibrosis-gastritis-megaloblastic anemia syndrome, sourced from HPO and Orphanet clinical annotations.
HypospadiasShawl scrotumNephrotic syndromeHypertelorismMicrognathiaMacrotiaWide nasal bridgeDeeply set eyeTelecanthusGlanular hypospadiasIntellectual disabilityAbnormal erythrocyte morphologyMegaloblastic anemiaFrontal bossingDiarrheaRecurrent respiratory infectionsFolate-unresponsive megaloblastic anemiaGastritisPneumoniaPulmonary fibrosisBronchiectasisOsteoporosisHepatitisLiver cirrhosisPeptic ulcer diseaseHeart failureBronchitisDyspneaCyanosisMuscle weaknessGallstoneAtelectasisCholestasisBowel obstruction
Classification & Codes
ICD-10 Code
E84.9MeSH Code
C537039Orphanet Code
ORPHA:2575cystic fibrosis-gastritis-megaloblastic anemia syndrome
| ICD-10 | E84.9 |
| MeSH | C537039 |
| Orphanet | ORPHA:2575 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO