Focal Dermal Hypoplasia synonyms

Focal Dermal Hypoplasia, also widely known as Goltz syndrome, is a rare multi-system genetic disorder characterized by skin, skeletal, dental, and ocular abnormalities. While historically referred to by several names, Focal Dermal Hypoplasia is the current preferred medical term used in international clinical and research settings to accurately describe the underlying pathology.

What are the common synonyms for Focal Dermal Hypoplasia?

In medical literature, you may encounter several names for Focal Dermal Hypoplasia. The most common synonym is Goltz syndrome, named after Robert W. Goltz, who provided a detailed description of the condition in 1962. Other historical or descriptive terms include:

• Goltz-Gorlin syndrome


• Dermal hypoplasia, focal


• Focal dermal dysplasia


• MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea syndrome)

Why does this condition have multiple names?

The variety of names for Focal Dermal Hypoplasia stems from the era of clinical discovery, where conditions were often named after the physicians who first characterized them. As clinical genetics evolved, nomenclature shifted toward descriptive terms that reflect the biological nature of the disease. While "Goltz syndrome" is still frequently used in clinical practice, Focal Dermal Hypoplasia is the standardized term used to avoid confusion with other conditions like Gorlin syndrome (Nevoid Basal Cell Carcinoma Syndrome).

How is the condition classified in medical databases?

To ensure consistent care and research, major health organizations utilize specific identification codes for Focal Dermal Hypoplasia:

1. OMIM (Online Mendelian Inheritance in Man): #305600


2. Orphanet: ORPHA372


3. ICD-10: Q82.8 (Other specified congenital malformations of skin)

Currently, 29 people with Focal Dermal Hypoplasia have joined the DiseaseMaps community, sharing their experiences to help others navigate these varying medical classifications.

Next steps

• Consult with a clinical geneticist to confirm your diagnosis and understand the X-linked dominant inheritance pattern.


• Use the term Focal Dermal Hypoplasia when communicating with specialists to ensure your records align with international coding standards.


• Connect with the DiseaseMaps community to share experiences with other families affected by this rare condition.

Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment from a qualified healthcare provider.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Focal Dermal Hypoplasia


• Orphanet: Focal Dermal Hypoplasia (ORPHA372)


• OMIM (Online Mendelian Inheritance in Man): Entry #305600


• The National Foundation for Ectodermal Dysplasias (NFED)