Majeed syndrome
Findings
No curated finding names Majeed syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.
Definition from the Mondo Disease Ontology (MONDO:0012316), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
44 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArthralgiaHPOHP:0002829
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- 4 of 4 reported patients
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 6 of 6 reported patients
- Erythroid hyperplasiaHPOHP:0012132
- 11 of 11 reported patients
- Failure to thriveHPOHP:0001508
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 32
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- Congenital hypoplastic anemiaHPOHP:0004810
- Very frequent (80% to 99% of cases)
- FeverHPOHP:0001945
- Very frequent (80% to 99% of cases)
- Hypochromic microcytic anemiaHPOHP:0004840
- Very frequent (80% to 99% of cases)
- Metaphyseal irregularityHPOHP:0003025
- Very frequent (80% to 99% of cases)
- OsteomyelitisHPOHP:0002754
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LPIN2HGNC:14450
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Majeed syndrome
- Also called
- chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome