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Acronyms that contain the term focal dermal hypoplasia
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| Term | Definition | Rating |
|---|---|---|
| FDH | Focal Dermal Hypoplasia |
What does focal dermal hypoplasia mean?
- Focal dermal hypoplasia
- Focal dermal hypoplasia is a form of ectodermal dysplasia. It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin. It has been associated with PORCN gene mutations on the X chromosome. The differential diagnosis of focal dermal hypoplasia syndrome includes autosomal recessive Setleis syndrome due to TWIST2 gene mutations; a syndrome of focal dermal hypoplasia, morning glory anomaly, and polymicrogyria; incontinentia pigmenti; oculocerebrocutaneous syndrome; Rothmund-Thomson syndrome; and MLS syndrome caused by deletions or point mutations in the HCCS gene.
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"focal dermal hypoplasia." Abbreviations.com. STANDS4 LLC, 2024. Web. 25 Apr. 2024. <https://www.abbreviations.com/focal%20dermal%20hypoplasia>.
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