Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Features include always present findings: Epicanthus, Autism, Bone marrow hypocellularity, and Retrognathia and others; and common findings: Submucous cleft palate, Inner ear hearing loss (sensorineural hearing impairment), Macrocytic anemia, and Low-set ears and others. 52 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 7 | Macrocytic anemia, Low red blood cell count (anemia), Low white blood cell count (decreased total leukocyte count) |
Biomarker and diagnostic research for Diamond-Blackfan anemia 22 has been reported in the published literature.
Phenotype severity distribution: 25 always present features, 9 common features.
No clinical trials have been registered for Diamond-Blackfan anemia 22.
8 publications have been identified in PubMed for Diamond-Blackfan anemia 22. Research spans Epidemiology / Natural History (38%), Diagnostic / Biomarker (25%), and Case Report / Case Series (13%).
Lozano-Gil JM (2026). [PMID: 41514124](https://pubmed.ncbi.nlm.nih.gov/41514124/). *EMBO Mol Med*. [Gene Therapy / Novel Therapeutics]
Kanda J (2026). [PMID: 41592701](https://pubmed.ncbi.nlm.nih.gov/41592701/). *Transplant Cell Ther*. [Epidemiology / Natural History]
Choi YB (2026). [PMID: 41948977](https://pubmed.ncbi.nlm.nih.gov/41948977/). *Eur J Haematol*. [Epidemiology / Natural History]
Torchio F (2026). [PMID: 42108919](https://pubmed.ncbi.nlm.nih.gov/42108919/). *Am J Hematol*. [Epidemiology / Natural History]
Ling T (2026). [PMID: 41587073](https://pubmed.ncbi.nlm.nih.gov/41587073/). *Blood*. [Basic Science / Preclinical]
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC
Online Mendelian Inheritance in Man
Common questions about Diamond-Blackfan anemia 22
Head and neck | 4 | Cleft palate, Submucous cleft palate, Triangular face |
Bones and joints | 3 | Bone marrow hypocellularity, Metacarpophalangeal thumb joint contracture, Interphalangeal thumb joint contracture |
Arms and legs | 3 | Clinodactyly of the 5th finger, Clinodactyly of the 5th toe, Short 5th finger |
Ears | 2 | Hearing loss (hearing impairment), Inner ear hearing loss (sensorineural hearing impairment) |
Growth and development | 2 | Short stature, Failure to thrive |
Muscles | 2 | Metacarpophalangeal thumb joint contracture, Interphalangeal thumb joint contracture |
Neoplasm | 1 | Neoplasm |
Metabolism | 1 | Fever |
Digestive system | 1 | Vomiting |
Amiot J (2025). [PMID: 39920491](https://pubmed.ncbi.nlm.nih.gov/39920491/). *Fam Cancer*. [Diagnostic / Biomarker]
Liao C (2024). [PMID: 38806998](https://pubmed.ncbi.nlm.nih.gov/38806998/). *Reprod Sci*. [Case Report / Case Series]