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Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
Features include always present findings: Short foot, Thin vermilion border, Short stature, and Deeply set eye and others; and common findings: Gynecomastia. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Mild intellectual disability, Global developmental delay, Specific learning disability |
Biomarker and diagnostic research for Xq27.3q28 duplication syndrome has been reported in the published literature.
Phenotype severity distribution: 13 always present features, 1 common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Xq27.3q28 duplication syndrome.
4 publications have been identified in PubMed for Xq27.3q28 duplication syndrome. Research spans Diagnostic / Biomarker (50%) and Case Report / Case Series (50%).
Oktay MA (2026). [PMID: 42112678](https://pubmed.ncbi.nlm.nih.gov/42112678/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Yin Y (2025). [PMID: 40616234](https://pubmed.ncbi.nlm.nih.gov/40616234/). *Prenat Diagn*. [Diagnostic / Biomarker]
Deng GS (2025). [PMID: 39792721](https://pubmed.ncbi.nlm.nih.gov/39792721/). *Medicine (Baltimore)*. [Case Report / Case Series]
Li W (2025). [PMID: 41258163](https://pubmed.ncbi.nlm.nih.gov/41258163/). *Hum Genomics*. [Diagnostic / Biomarker]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:51 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Xq27.3q28 duplication syndrome
Arms and legs
2 |
Short foot, Small hand |
Growth and development | 2 | Short stature, Intrauterine growth retardation |
Digestive system | 1 | Abdominal obesity |
Hormones | 1 | Hypogonadism |
Age of onset: at birth, childhood.