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Features include always present findings: Femoral bowing, Elevated circulating alkaline phosphatase concentration, Osteosclerosis of the ulna, and Short femur and others. 22 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 10 | Femoral bowing, Osteosclerosis of the ulna, Short femur |
Phenotype severity distribution: 10 always present features.
No clinical trials have been registered for Paget disease of bone 2, early-onset.
5 publications have been identified in PubMed for Paget disease of bone 2, early-onset. Research spans Epidemiology / Natural History (40%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).
O'Sullivan S (2025). [PMID: 39669768](https://pubmed.ncbi.nlm.nih.gov/39669768/). *JBMR plus*. [Epidemiology / Natural History]
Weng R (2025). [PMID: 40458045](https://pubmed.ncbi.nlm.nih.gov/40458045/). *The Journal of clinical endocrinology and metabolism*. [Basic Science / Preclinical]
Fudala ML (2025). [PMID: 40535393](https://pubmed.ncbi.nlm.nih.gov/40535393/). *Cureus*. [Case Report / Case Series]
Karimi D (2024). [PMID: 39457492](https://pubmed.ncbi.nlm.nih.gov/39457492/). *Biomedicines*. [Epidemiology / Natural History]
Cundy T (2024). [PMID: 38902530](https://pubmed.ncbi.nlm.nih.gov/38902530/). *Calcified tissue international*. [Review / Meta-Analysis]
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 12:42 PM UTC
Online Mendelian Inheritance in Man
Common questions about Paget disease of bone 2, early-onset
Brain and nerves
3 |
Cranial nerve paralysis, Headache, Brain stem compression |
Lab test results | 1 | Elevated circulating alkaline phosphatase concentration |
Ears | 1 | Bilateral conductive hearing impairment |
Age of onset: childhood.
AI-curated news mentioning Paget disease of bone 2, early-onset
Updated Mar 12, 2026
A retrospective case series highlights the diagnostic and therapeutic challenges faced in managing mammary and extra-mammary Paget disease. The findings underscore the need for improved strategies in diagnosis and treatment for these rare conditions.