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Features include always present findings: Brachydactyly, Short femoral neck, Short 1st metacarpal, and Hypergonadotropic hypogonadism and others. 24 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 8 | Short finger, Disproportionate short-limb short stature, Radial deviation of finger |
BMPR1B encodes bone morphogenetic protein receptor type 1B (502 aa). On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Highest expression in Nerve Tibial (19.1 TPM) and Prostate (13.7 TPM).
Acromesomelic dysplasia 3 is associated with mutations in the BMPR1B gene on chromosome 4.
The BMPR1B protein participates in Signaling by BMP and Definitive endoderm cell produces ventral foregut endoderm cell pathways.
BMPR1B is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 6.5.
Genetic testing for BMPR1B is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for acromesomelic dysplasia 3 has been reported in the published literature.
Phenotype severity distribution: 22 always present features.
No clinical trials have been registered for acromesomelic dysplasia 3.
178 publications have been identified in PubMed for acromesomelic dysplasia 3. Research spans Case Report / Case Series (30%), Review / Meta-Analysis (24%), and Basic Science / Preclinical (15%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 54 | 30% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about acromesomelic dysplasia 3
Bones and joints
2 |
Short femoral neck, Delayed skeletal maturation |
Hormones | 2 | Hypergonadotropic hypogonadism, Primary amenorrhea |
Lab test results | 2 | Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level |
Growth and development | 1 | Disproportionate short-limb short stature |
42 |
24% |
Laboratory research | 27 | 15% |
Disease patterns and progression | 27 | 15% |
Clinical study results | 18 | 10% |
Testing and diagnosis research | 6 | 3% |
Other research | 3 | 2% |
New treatment approaches | 1 | 1% |
Mohamed HS (2026). [PMID: 41537483](https://pubmed.ncbi.nlm.nih.gov/41537483/). *Afr J Reprod Health*. [Diagnostic / Biomarker]
Zhou C (2026). [PMID: 41831660](https://pubmed.ncbi.nlm.nih.gov/41831660/). *Reprod Toxicol*. [Basic Science / Preclinical]
Brännström M (2026). [PMID: 41701557](https://pubmed.ncbi.nlm.nih.gov/41701557/). *Hum Reprod*. [Epidemiology / Natural History]
Christopoulos P (2026). [PMID: 41616459](https://pubmed.ncbi.nlm.nih.gov/41616459/). *Best Pract Res Clin Obstet Gynaecol*. [Review / Meta-Analysis]
Chen N (2026). [PMID: 41233206](https://pubmed.ncbi.nlm.nih.gov/41233206/). *J Med Genet*. [Basic Science / Preclinical]
Haveliwala Z (2026). [PMID: 41015280](https://pubmed.ncbi.nlm.nih.gov/41015280/). *J Pediatr Surg*. [Other]
Drever N (2026). [PMID: 41713152](https://pubmed.ncbi.nlm.nih.gov/41713152/). *Eur J Obstet Gynecol Reprod Biol*. [Review / Meta-Analysis]
Tang Y (2026). [PMID: 41539711](https://pubmed.ncbi.nlm.nih.gov/41539711/). *Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi*. [Review / Meta-Analysis]
Güneş N (2026). [PMID: 42151490](https://pubmed.ncbi.nlm.nih.gov/42151490/). *Eur J Pediatr*. [Basic Science / Preclinical]
Lin M (2026). [PMID: 40504391](https://pubmed.ncbi.nlm.nih.gov/40504391/). *Abdominal radiology (New York)*. [Basic Science / Preclinical]