Focal Dermal Hypoplasia

Common Name(s)

Focal Dermal Hypoplasia

Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. Most individuals with this condition are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. This condition is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Focal Dermal Hypoplasia" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

Last Updated: 7 May 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Focal Dermal Hypoplasia" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

http://www.nfed.org

Last Updated: 7 May 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Focal Dermal Hypoplasia" returned 22 free, full-text research articles on human participants. First 3 results:

Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis.
 

Author(s): Eric A Pasman, Theresa A Heifert, Cade M Nylund

Journal: World J. Gastroenterol.. 2017 Mar;23(12):2246-2250.

 

Focal dermal hypoplasia (FDH) is a rare disorder of the mesodermal and ectodermal tissues. Here we present an eight-year-old female known to have FDH who presents with poor weight gain and dysphagia. She was diagnosed with multiple esophageal papillomas and eosinophilic esophagitis. ...

Last Updated: 31 Dec 1969

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Severe abdominal wall defect leading to dehiscence in focal dermal hypoplasia (Goltz syndrome).
 

Author(s): Nilendu Sarma, Sayantani Chakraborty, Subhamoy Neogi, Sushila Hansda

Journal: Indian J Dermatol Venereol Leprol. ;81(2):188-90.

 

Last Updated: 31 Dec 1969

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Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia.
 

Author(s): Marielle P Young, Briana L Sawyer, M Elizabeth Hartnett

Journal: J AAPOS. 2014 Apr;18(2):205-7.

 

Focal dermal hypoplasia is a rare X-linked dominant disorder with in utero lethality in males. Affected patients have been reported to have several different mutations in the PORCN gene on chromosome Xp11.23. Dysplastic mesodermal and ectodermal tissue causes clinical findings in ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Focal Dermal Hypoplasia" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Selected X-linked Disorders: Goltz Syndrome
 

Status: Recruiting

Condition Summary: Focal Dermal Hypoplasia (FDH); Goltz Syndrome

 

Last Updated: 4 May 2017

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