Goltz syndrome is a rare genetic condition characterized by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include thin skin and areas of missing skin; fat nodules in skin manifesting as soft, yellow-pink nodules; and pigmentary changes. Focal dermal hypoplasia (FDH; MIM #305600), also known as Goltz syndrome or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder that is lethal in utero in males [1].

Understanding the Context

The primary feature of FDH is patchy dermal hypoplasia, with herniation of fat through defects in the dermis. Goltz syndrome is a rare multisystem disorder affecting tissues of meso-ectodermal origin with cutaneous, skeletal, ocular, and dental abnormalities. A 3-year-old girl presented with decreased vision in both the eyes and a history of cleft-lip repair and delayed milestones. Goltz syndrome, also known as focal dermal hypoplasia, is a rare genetic disorder that primarily affects the skin, but can also involve the eyes, skeleton, teeth, and gastrointestinal system.

Goltz Syndrome - NFED

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Goltz Syndrome - NFED
Gorlin goltz syndrome | PDF
Gorlin goltz syndrome | PDF
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Learning More About Papillomas and Goltz Syndrome - NFED
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Gorlin Goltz Syndrome
Gorlin Goltz Syndrome
SOLUTION: Severe abdominal wall defect leading to dehiscence in focal
SOLUTION: Severe abdominal wall defect leading to dehiscence in focal
SOLUTION: Severe abdominal wall defect leading to dehiscence in focal

Key Insights

Discover NFED’s new guide for parents of babies with Goltz syndrome. Learn symptoms, treatments, family stories, and resources for support. Goltz syndrome is a rare and complex genetic disorder affecting multiple body systems. Present from birth, this condition involves developmental abnormalities that can vary significantly among affected individuals. It has an estimated prevalence of less than 1 in 100,000 individuals.

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Final Thoughts

Focal dermal hypoplasia is a genetically inherited disorder that can affect the development of many different organ systems and was first described by Goltz in 1962. Goltz and Gorlin worked together at the University of Minnesota [11] and are credited for describing the symptoms of the disorder in more detail than ever before and tracking its genetic trends.