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What is Focal dermal hypoplasia?

What is Focal dermal hypoplasia?

  • Focal dermal hypoplasia: A rare genetic disorder characterized by bone, skin, teeth and pigmentation abnormalities as well as asymmetry of the face, trunk and extremities.
  • Focal dermal hypoplasia: Multiple abnormalities with a variable expression consisting mainly of asymmetry of the face, trunk, and extremities; atrophy, telangiectasia, pigmentation disorders, and localized fat deposits in the skin; multiple mucous and perioral papillomas; and skeletal abnormalities involving the extremities. Mild mental deficiency occurs in about 15%.
    Source - Diseases Database

Focal dermal hypoplasia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Focal dermal hypoplasia, or a subtype of Focal dermal hypoplasia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Focal dermal hypoplasia as a "rare disease".
Source - Orphanet

Focal dermal hypoplasia: Introduction

Types of Focal dermal hypoplasia:

Broader types of Focal dermal hypoplasia:

How serious is Focal dermal hypoplasia?

Complications of Focal dermal hypoplasia: see complications of Focal dermal hypoplasia

What causes Focal dermal hypoplasia?

Causes of Focal dermal hypoplasia: see causes of Focal dermal hypoplasia

What are the symptoms of Focal dermal hypoplasia?

Symptoms of Focal dermal hypoplasia: see symptoms of Focal dermal hypoplasia

Complications of Focal dermal hypoplasia: see complications of Focal dermal hypoplasia

Can anyone else get Focal dermal hypoplasia?

More information: see contagiousness of Focal dermal hypoplasia
Inheritance: see inheritance of Focal dermal hypoplasia

Focal dermal hypoplasia: Testing

Misdiagnosis: see misdiagnosis and Focal dermal hypoplasia.

How is it treated?

Doctors and Medical Specialists for Focal dermal hypoplasia: Medical Geneticist, Dermatologist ; see also doctors and medical specialists for Focal dermal hypoplasia.
Treatments for Focal dermal hypoplasia: see treatments for Focal dermal hypoplasia
Research for Focal dermal hypoplasia: see research for Focal dermal hypoplasia

Name and Aliases of Focal dermal hypoplasia

Main name of condition: Focal dermal hypoplasia

Other names or spellings for Focal dermal hypoplasia:

Goltz syndrome, Goltz-Peterson-Gorlin-Ravitz syndrome, Jessner-Cole syndrome, Liebermann-Cole syndrome, ectodermal and mesodermal dysplasia with osseous involvement, focal dermal hypopoplasia (FDH) syndrome, DHOF, FODH, FDH, Goltz Gorlin Syndrome

Goltz-Gorlin syndrome (Focal dermal hypoplasia) Source - Diseases Database

DHOF, FDH, FODH, Goltz Gorlin Syndrome, Goltz Syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Focal dermal hypoplasia: Related Conditions

Research the causes of these diseases that are similar to, or related to, Focal dermal hypoplasia:


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