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A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
Features include always present findings: Low muscle tone (hypotonia), Abnormally large globe, Cafe-au-lait spot, and Buphthalmos and others; and very common findings: Megalocornea, Coarse facial features, Prominent coccyx, and Prominent forehead and others. 84 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 13 | Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Weak and brittle bones (osteoporosis) |
Head and neck | 4 | Coarse facial features, Thin upper lip vermilion, High palate |
Heart and blood vessels | 4 | Ventricular septal defect, Secundum atrial septal defect, Atrial septal defect |
Arms and legs | 3 | Short phalanx of finger, Clinodactyly of the 5th finger, Camptodactyly of finger |
Skin | 2 | Redundant neck skin, Thickened skin |
Muscles | 1 | Low muscle tone (hypotonia) |
Eyes | 1 | Developmental glaucoma |
Brain and nerves | 1 | Depressed nasal bridge |
Growth and development | 1 | Growth delay |
Age of onset: at birth.
SH3PXD2B function has not been fully characterized.
Frank-Ter Haar syndrome is caused by mutations in the SH3PXD2B gene on chromosome 5.
Genetic testing for SH3PXD2B is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Frank-Ter Haar syndrome has been reported in the published literature.
Phenotype severity distribution: 17 always present features, 19 very common features, 25 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Frank-Ter Haar syndrome.
5 publications have been identified in PubMed for Frank-Ter Haar syndrome. Research spans Review / Meta-Analysis (40%), Diagnostic / Biomarker (20%), and Case Report / Case Series (20%).
Huber J (2026). [PMID: 41521804](https://pubmed.ncbi.nlm.nih.gov/41521804/). *Development*. [Basic Science / Preclinical]
Mugada VK (2025). [PMID: 41480695](https://pubmed.ncbi.nlm.nih.gov/41480695/). *Prague Med Rep*. [Review / Meta-Analysis]
Ghadimi M (2024). [PMID: 40078467](https://pubmed.ncbi.nlm.nih.gov/40078467/). *Anesth Pain Med*. [Case Report / Case Series]
Mamadapur M (2024). [PMID: 39463871](https://pubmed.ncbi.nlm.nih.gov/39463871/). *Mediterr J Rheumatol*. [Review / Meta-Analysis]
Khan YN (2024). [PMID: 38952703](https://pubmed.ncbi.nlm.nih.gov/38952703/). *Vavilovskii Zhurnal Genet Selektsii*. [Diagnostic / Biomarker]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC
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