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Features include always present findings: Broad phalanx, Rhizomelia, Short stature, and Short metacarpal and others; and common findings: Flared metaphysis, Disproportionate short stature, Ulnar bowing, and Prominent deltoid tuberosities and others. 41 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 5 | Short finger, Broad finger, Short phalanx of finger |
PRKG2 function has not been fully characterized.
Acromesomelic dysplasia 4 is associated with mutations in the PRKG2 gene on chromosome 4.
Genetic testing for PRKG2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for acromesomelic dysplasia 4 has been reported in the published literature.
Phenotype severity distribution: 16 always present features, 24 common features.
No clinical trials have been registered for acromesomelic dysplasia 4.
3 publications have been identified in PubMed for acromesomelic dysplasia 4. Research spans Basic Science / Preclinical (67%) and Diagnostic / Biomarker (33%).
Güneş N (2026). [PMID: 42151490](https://pubmed.ncbi.nlm.nih.gov/42151490/). *Eur J Pediatr*. [Basic Science / Preclinical]
Mäkeläinen S (2025). [PMID: 41296694](https://pubmed.ncbi.nlm.nih.gov/41296694/). *PLoS One*. [Basic Science / Preclinical]
Jacinto J (2025). [PMID: 40999323](https://pubmed.ncbi.nlm.nih.gov/40999323/). *Genet Sel Evol*. [Diagnostic / Biomarker]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC
Online Mendelian Inheritance in Man
Common questions about acromesomelic dysplasia 4
Bones and joints |
4 |
Excessive inward curve of the lower back (lumbar hyperlordosis), Accelerated skeletal maturation, Thoracic scoliosis |
Growth and development | 2 | Short stature, Disproportionate short stature |
Head and neck | 2 | Mandibular prognathia, Triangular face |
Muscles | 1 | Low muscle tone (hypotonia) |
Heart and blood vessels | 1 | Third degree atrioventricular block |
Digestive system | 1 | Chronic constipation |