Features include always present findings: Fragile skin, Prominent forehead, Overgrowth, and Thin upper lip vermilion and others; and common findings: Depression, Anxiety, Intellectual disability, and Tall stature and others. 24 total HPO annotations.

PDGFRB function has not been fully characterized.

Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome is associated with mutations in the PDGFRB gene on chromosome 5.

Genetic testing for PDGFRB is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 9 always present features, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

5 publications have been identified in PubMed for skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome. Research spans Basic Science / Preclinical (60%) and Review / Meta-Analysis (40%).

Recent Publications

• Gladkauskas T (2026). [PMID: 41223009](https://pubmed.ncbi.nlm.nih.gov/41223009/). *Clinical dysmorphology*. [Review / Meta-Analysis]

• Kim J (2026). [PMID: 41993315](https://pubmed.ncbi.nlm.nih.gov/41993315/). *bioRxiv*. [Basic Science / Preclinical]

• Cristea I (2025). [PMID: 41094177](https://pubmed.ncbi.nlm.nih.gov/41094177/). *European journal of human genetics : EJHG*. [Review / Meta-Analysis]

• Palmisano B (2025). [PMID: 40324210](https://pubmed.ncbi.nlm.nih.gov/40324210/). *Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research*. [Basic Science / Preclinical]