Focal dermal hypoplasia

Get in touch with RARE Concierge.

Contact RARE Concierge

Focal dermal hypoplasia

Synonyms: Goltz syndrome | Goltz-Gorlin syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues classically manifesting with skin abnormalities limb defects ocular malformations and mild facial dysmorphism.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

Newly diagnosed with
Focal dermal hypoplasia?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.