Focal dermal hypoplasia – Austra Health

Focal dermal hypoplasia, also known as Goltz syndrome, is a rare genetic condition that affects multiple body systems. It is caused by mutations in a gene called PORCN, which is responsible for producing a protein needed for the normal development of several tissues and organs.

People with focal dermal hypoplasia often have patchy, thin, and easily damaged skin. They may also have abnormalities in other tissues, such as the eyes, teeth, hair, and nails. Some individuals may have skeletal abnormalities or problems with their digestive and urinary systems.

The signs and symptoms of focal dermal hypoplasia can vary widely from person to person. Some individuals may have mild symptoms that are hardly noticeable, while others may have more severe problems that affect their daily lives. It is not uncommon for affected individuals to have different symptoms within the same family.

Diagnosis of focal dermal hypoplasia is usually based on the presence of characteristic physical features and a thorough evaluation of the individual’s medical history. Genetic testing can be used to confirm the diagnosis and identify the specific gene mutations.

There is currently no cure for focal dermal hypoplasia, but treatment focuses on managing the symptoms and improving quality of life. This may include specialized skin care, orthopedic interventions, and addressing any associated complications, such as infections or cleft lip and palate.

Research on focal dermal hypoplasia is ongoing, with scientific studies and genetic research helping to better understand the disease and its causes. Resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed provide valuable information on the latest studies and findings regarding this condition.

Support and advocacy groups can also provide additional information and resources for individuals and families affected by focal dermal hypoplasia. ClinicalTrials.gov is another useful resource for finding information on clinical trials and ongoing research studies that may offer potential treatments or interventions.

In conclusion, focal dermal hypoplasia is a rare genetic condition that affects multiple body systems. Although it is a complex and often challenging condition to manage, ongoing research and support from medical professionals and advocacy groups offer hope for improved understanding, treatment, and quality of life for those affected.

Frequency

Focal dermal hypoplasia is a rare genetic disorder that affects multiple body systems. The exact frequency of this condition is not known, but it is estimated to occur in approximately 1 in 250,000 to 1 in 50,000 individuals.

Females are primarily affected by focal dermal hypoplasia, as the condition is caused by mutations in the PORCN gene located on the X chromosome. Males with a mutation in the PORCN gene typically do not survive gestation.

Focal dermal hypoplasia is typically present at birth, with some of the characteristic signs being present in infancy. Additional signs and symptoms of the condition may appear as the affected individual grows older.

The signs and symptoms of focal dermal hypoplasia can vary widely from person to person. The most common features of the condition include skin abnormalities such as thin and fragile skin, hypoplastic (underdeveloped) pigmented patches, and small linear depressions in the skin. These skin abnormalities are typically present on the fingers, toes, and around body openings such as the mouth and eyes.

Other common features of focal dermal hypoplasia include skeletal abnormalities, such as fused fingers or toes, cleft lip or palate, and limb deformities. Some individuals may also have neurologic abnormalities, including nerve problems and developmental delays.

The frequency of specific signs and symptoms can vary, but it is estimated that approximately 40 to 50 percent of individuals with focal dermal hypoplasia have intellectual disability or learning problems.

Focal dermal hypoplasia is diagnosed based on the presence of characteristic signs and symptoms. Genetic testing for mutations in the PORCN gene can confirm the diagnosis.

There is currently no cure for focal dermal hypoplasia, and treatment focuses on managing the individual symptoms and complications associated with the condition. Supportive care is necessary to address the specific needs of each affected individual.

Research is ongoing to better understand the underlying causes and inheritance patterns of focal dermal hypoplasia. Studies have reported various mutations in the PORCN gene, which can result in an inactive or partially active protein. The exact mechanisms by which these mutations lead to the signs and symptoms of focal dermal hypoplasia are still being investigated.

For more information about focal dermal hypoplasia, you may find the following resources helpful:

Genetics Home Reference
Online Mendelian Inheritance in Man (OMIM)
PubMed

These resources provide scientific articles, studies, and additional information on the frequency, genetic inheritance, and clinical characteristics of focal dermal hypoplasia.

It is important to consult with a healthcare professional or genetic counselor for accurate diagnosis, testing, and support when dealing with focal dermal hypoplasia or any other genetic condition.

Causes

Focal dermal hypoplasia is caused by mutations in the PORCN gene. This gene provides instructions for making a protein that is involved in chemical reactions called Wnt signaling. Wnt signaling is important for the development of many tissues and organs in the body, including the skin, teeth, hair, eyes, and limbs. Mutations in the PORCN gene result in a nonfunctional or absent protein, disrupting the Wnt signaling pathway and leading to the signs and symptoms of focal dermal hypoplasia.

Focal dermal hypoplasia follows an X-linked inheritance pattern, which means the condition is caused by mutations in the PORCN gene on the X chromosome. The X chromosome is one of the two sex chromosomes, and males have one X and one Y chromosome, while females have two X chromosomes. Because males only have one X chromosome, a mutation in the PORCN gene on their single X chromosome is sufficient to cause the condition. Females, on the other hand, have a second X chromosome that can compensate for the mutated gene, so they may have a milder form of the condition or may not have any symptoms at all.

The PORCN gene is normally active in many different cell types throughout the body. It plays a crucial role in early embryonic development, as well as in the maintenance and function of various tissues and organs. Mutations in the PORCN gene can lead to problems in the development and functioning of the skin, skeletal system, teeth, eyes, and other body parts.

It is important for individuals with focal dermal hypoplasia and their families to work closely with healthcare professionals and genetic counselors to understand the underlying genetic cause of the condition. Genetic testing can help confirm a diagnosis of focal dermal hypoplasia and provide information about the specific gene mutations involved. This information can be valuable for understanding the inheritance pattern of the condition and for genetic counseling regarding the risks of passing the condition on to future generations.

For more information about the causes of focal dermal hypoplasia, the following resources provide additional scientific and clinical information:

PubMed – a database of scientific articles
OMIM – Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders
ClinicalTrials.gov – a database of clinical trials
Focal Dermal Hypoplasia Support and Advocacy Center – a nonprofit organization providing support and information for individuals and families affected by the condition
McGrath JA. Focal Dermal Hypoplasia. 2020 Oct 28. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1543/.

Learn more about the gene associated with Focal dermal hypoplasia

Focal dermal hypoplasia (FDH) is a rare genetic disorder that affects the development of various tissues in the body. It is caused by mutations in the PORCN gene, which is located on the X chromosome.

The PORCN gene provides instructions for making a protein that plays a critical role in the Wnt signaling pathway. This pathway is involved in many aspects of development, including the formation of tissues and organs.

When mutations occur in the PORCN gene, the Wnt signaling pathway is disrupted, leading to the characteristic features of FDH. These can include skin abnormalities, such as small, opening-shaped lesions, and dermal hypoplasia, which is the underdevelopment of the skin. Other signs and symptoms may include skeletal and dental abnormalities, cleft lip or palate, limb malformations, and problems with the eyes, ears, and nerves.

FDH is inherited in an X-linked dominant manner, which means that the condition is caused by a mutation in one copy of the gene. However, not all individuals with a mutation in the PORCN gene will develop the full range of signs and symptoms associated with FDH. This is because the severity of the condition can vary widely even among individuals from the same family.

If you are a patient or a family member affected by FDH, there are resources available to support you. The FDH Clinical Trials web page provides information about ongoing research studies and clinical trials that may be relevant to the condition. In addition, the Online Mendelian Inheritance in Man (OMIM) database and PubMed have articles and scientific information about FDH and the PORCN gene.

Genetic testing can be used to confirm a diagnosis of FDH and identify the specific mutation in the PORCN gene. This information can be helpful for understanding the inheritance pattern and making decisions about family planning.

It is important to note that FDH is a very rare condition, and resources and information about it may be limited. However, there are advocacy organizations and support groups that can provide additional information and connect individuals with others affected by the condition.

Inheritance

Focal dermal hypoplasia (FDH) is a rare genetic condition caused by mutations in the PORCN gene. The PORCN gene is located on the X chromosome, which means that FDH follows an X-linked inheritance pattern.

This means that the condition mainly affects females, as males have only one X chromosome and a single affected copy of the gene is enough to cause the syndrome. Males who inherit the mutated gene are typically more severely affected by FDH than females. However, there have been rare cases of males with milder symptoms.

FDH can also occur in individuals without a family history of the condition. This is because the genetic mutations that cause FDH can arise spontaneously during the formation of reproductive cells or early embryonic development. These are known as de novo mutations.

Studies have shown that FDH is associated with a wide range of signs and symptoms, including skin abnormalities, skeletal defects, eye problems, and developmental delay. The severity of the condition can vary widely between affected individuals, even within the same family.

If a person is suspected of having FDH, genetic testing can be used to confirm the diagnosis. This involves analyzing the PORCN gene for mutations. Genetic counseling may also be recommended for affected individuals and their families to understand the inheritance pattern, possible recurrence risks, and available management options.

For more information about the inheritance and genetic causes of FDH, you can refer to scientific articles and resources available on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic research centers.

Other Names for This Condition

Focal dermal hypoplasia is a rare genetic condition that goes by several names. These include:

Goltz syndrome (after the physician who first described it)
Goltz-Gorlin syndrome
Mesodermal dysplasia
Aplasia cutis congenita with limb anomalies
Cutaneous atrophodermic dysplasia

Each of these names references specific aspects or features of the condition that are observed in affected patients. For example, the term “mesodermal dysplasia” highlights the fact that the condition affects the mesodermal layer of cells during early development.

It is important to note that while these names are sometimes used interchangeably, they all refer to the same condition. The underlying cause of focal dermal hypoplasia is mutations in the PORCN gene, which is responsible for producing a protein that plays a critical role in the development and function of various tissues and organs in the body.

Additional research is ongoing to better understand the specific genetic and cellular mechanisms involved in this condition. The information gained from these studies may lead to improved diagnostic testing, treatment options, and support resources for individuals with focal dermal hypoplasia.

Additional Information Resources

Patients with focal dermal hypoplasia (FDH) may find the following resources helpful in obtaining more information about their condition.

Genetic Resources: The following websites provide information on the genetics of FDH and related conditions:

Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic disorders: www.omim.org
GeneReviews – expert-authored, peer-reviewed disease descriptions: www.ncbi.nlm.nih.gov/books/NBK1543/
Genetic Testing Registry – a directory of genetic tests for FDH: www.ncbi.nlm.nih.gov/gtr/conditions/C39100/

Research Articles: PubMed is a database that provides access to a wide range of scientific articles and studies on FDH. Here are some relevant research articles:

“Focal Dermal Hypoplasia in a Male with an Xp22.2 Deletion”
“Novel Mutations in PORCN Gene in 2 Cases of Focal Dermal Hypoplasia Syndrome”
“Focal Dermal Hypoplasia in a Male Patient: Clinical, Molecular and Genetic Evaluation”

Patient Support and Advocacy:

Focal Dermal Hypoplasia Support Group – an online support community for individuals and families affected by FDH: www.fdhsupport.com
National Organization for Rare Disorders (NORD) – provides information and support for rare diseases: www.rarediseases.org

Clinical Trials:

ClinicalTrials.gov – a registry of clinical trials for FDH and related conditions: www.clinicaltrials.gov

Remember, the information provided in these resources should be considered as additional information to support your understanding of focal dermal hypoplasia. Always consult with your healthcare provider for personalized medical advice and guidance.

Genetic Testing Information

Genetic testing for Focal Dermal Hypoplasia (FDH) can provide valuable information about the presence of certain genes and mutations associated with the syndrome. This information can help individuals and healthcare providers better understand the cause of FDH and guide treatment and management options.

Inheritance and Frequency:

FDH is an X-linked dominant genetic disorder, which means it primarily affects females, while males are typically less severely affected or may not manifest any symptoms at all.
The frequency of FDH is rare, with an estimated prevalence of approximately 1 in 50,000 to 100,000 individuals.

Genetic Testing:

Genetic testing for FDH usually involves analyzing a person’s DNA to identify mutations in the PORCN gene, which is responsible for the production of a protein necessary for normal skin and skeletal development.
Testing may also involve the analysis of other genes and chromosomes to rule out other genetic diseases or identify additional mutations.

Resources for Genetic Testing:

OMIM (Online Mendelian Inheritance in Man) – This database provides comprehensive information about genes, their functions, and associated disorders. It can be a valuable resource for those looking to learn more about FDH and genetic testing.
PubMed – PubMed is another useful resource for accessing scientific articles, research studies, and clinical trials related to FDH and genetic testing.
ClinicalTrials.gov – This online resource allows individuals to find information about ongoing clinical trials related to FDH and genetic testing.
GeneTests – GeneTests provides a catalog of genetic testing laboratories and resources for various genetic diseases, including FDH.
Focal Dermal Hypoplasia Foundation – The Focal Dermal Hypoplasia Foundation is an advocacy and support group for individuals and families affected by FDH. They may have resources and information about genetic testing.

Genetic testing can provide valuable information about the underlying causes of FDH and guide treatment and management plans. Individuals and families affected by FDH should consult with a healthcare professional to learn more about genetic testing options and resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about focal dermal hypoplasia, a rare genetic condition. GARD provides a wide range of resources, including articles, genetic information, and support for patients and families affected by this condition.

Focal dermal hypoplasia, also known as Goltz syndrome, is caused by mutations in the PORCN gene. This gene is responsible for the production of a protein that plays a critical role in the development of various tissues and organs. Mutations in the PORCN gene result in the characteristic signs and symptoms of the condition, such as the absence of certain fingers and toes, small eyes, and skin abnormalities.

Because focal dermal hypoplasia is a genetic condition, it cannot be cured. However, GARD provides information on current research and scientific studies that aim to better understand the condition and develop potential treatments. This information can help individuals learn more about the latest advancements in research and possibly participate in clinical trials.

GARD also offers additional resources for individuals looking for more information about focal dermal hypoplasia. The GARD Rare Diseases Registry allows patients and families to contribute to ongoing research efforts by providing information about their experience with the condition. The registry helps to collect data that can be used to better understand the frequency, signs, and other associated diseases of focal dermal hypoplasia.

For individuals who prefer scientific literature, GARD provides links to relevant articles on PubMed and OMIM. These resources can provide a more in-depth understanding of the genetic and cellular mechanisms underlying focal dermal hypoplasia.

In addition to providing information, GARD also offers support and advocacy for individuals and families affected by focal dermal hypoplasia. Support groups and organizations listed on the GARD website can connect patients and families with others going through similar challenges, providing a sense of community and understanding.

Overall, the Genetic and Rare Diseases Information Center is an invaluable resource for individuals seeking information about focal dermal hypoplasia. Whether they are looking for basic information, scientific literature, or support, GARD has a wealth of resources to help individuals navigate this rare condition.

Patient Support and Advocacy Resources

Focal dermal hypoplasia (FDH), also known as Goltz syndrome or focal dermal hypoplasia syndrome, is a rare genetic condition characterized by abnormalities in the development of the skin, hair, nails, teeth, and other parts of the body. Individuals with FDH may experience a range of physical and developmental problems, including skeletal abnormalities, cleft lip or palate, eye abnormalities, intellectual disabilities, and learning difficulties.

1. National Organization for Rare Disorders (NORD)

The National Organization for Rare Disorders (NORD) is a nonprofit advocacy organization dedicated to supporting individuals with rare diseases and their families. NORD provides resources and educational materials about FDH and connects patients with support groups and clinical trials. You can find more information about FDH on the NORD website.

2. Genetic and Rare Diseases Information Center (GARD)

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Institutes of Health (NIH). GARD provides information about rare genetic diseases, including FDH. They offer resources for patients, families, and healthcare professionals, including a detailed overview of FDH, information about genetic testing, and links to scientific articles and research studies.

3. Online Support Groups

Online support groups can be a valuable resource for individuals and families affected by FDH. These groups provide a platform for sharing experiences, asking questions, and connecting with others who understand the challenges of living with a rare condition. Some helpful online support groups for FDH include “Focal Dermal Hypoplasia – Goltz Syndrome Support Group” on Facebook and the “Goltz Syndrome” group on RareConnect.

4. PubMed and OMIM

Scientific resources such as PubMed and OMIM are useful for accessing research articles and clinical studies related to FDH. PubMed is a database of scientific articles from various medical journals, while OMIM is a comprehensive catalog of human genes and genetic disorders. These resources can provide you with more information about the genetic causes, inheritance patterns, and management of FDH.

5. ClinicalTrials.gov

ClinicalTrials.gov is a database of clinical studies conducted around the world. By searching for “focal dermal hypoplasia” on ClinicalTrials.gov, you can find information about ongoing research studies and clinical trials related to FDH. Participating in research studies can be an opportunity to contribute to the scientific understanding of FDH and potentially access new treatment options.

Remember, connecting with patient support and advocacy resources can provide you and your loved ones with valuable information, support, and a sense of community. It is important to consult with healthcare professionals for accurate diagnosis, treatment, and management of FDH.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about focal dermal hypoplasia (FDH), a rare condition characterized by abnormalities in the development of the skin, skeleton, and various other organs. Patients with FDH often have distinctive physical features, such as thin and fragile skin, absence or underdevelopment of fingers and toes, and cleft palate.

The genetic basis of FDH lies in mutations in the PORCN gene, which is located on the X chromosome and is responsible for the production of a protein critical for the development of various tissues and organs in the body. These mutations result in the inactive or partially functional PORCN protein, leading to the characteristic signs and symptoms of FDH.

Although the exact causes of FDH are not fully understood, it is believed to be a sporadic condition, meaning it occurs randomly without a family history. However, there have been reports of familial cases, suggesting a possible inherited component. In addition to FDH, mutations in the PORCN gene have also been associated with other X-linked diseases, such as Goltz syndrome and Focal Dermal Hypoplasia-like Syndrome, further emphasizing the importance of studying this gene and its role in human development.

Research studies from ClinicalTrials.gov aim to gain a better understanding of FDH and its associated genetic mutations. These studies investigate various aspects of the condition, such as the frequency of different mutations, the inheritance patterns, and the presence of additional genetic problems in affected individuals. They also explore the potential therapeutic strategies for FDH, including the development of gene-based therapies and targeted treatments to address specific symptoms or complications.

Scientific articles and references to OMIM (Online Mendelian Inheritance in Man) catalog, PubMed, and other databases support these research studies, providing additional information about the condition and its features. Some studies focus on the associated dermatological manifestations and infections, where small nerve fibers have been found to be absent or reduced in affected individuals. Other studies investigate the ocular abnormalities and the involvement of the eyes in FDH.

While research studies from ClinicalTrials.gov provide valuable insights into FDH and its genetic basis, it is important to note that there is currently no cure for the condition. Treatment is focused on managing the symptoms and providing support for affected individuals and their families.

Key Points about Focal Dermal Hypoplasia:
Frequency	Inheritance	Signs and Symptoms
Rare, affecting less than 1% of the population	Usually sporadic, but familial cases have been reported	Thin and fragile skin, absent or underdeveloped fingers and toes, cleft palate, ocular abnormalities

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides detailed information about various genetic diseases, including Focal Dermal Hypoplasia. This catalog serves as a valuable resource for researchers, healthcare professionals, and patients interested in understanding the signs, problems, and inheritance patterns associated with these conditions.

The OMIM gene and disease center provides comprehensive information about Focal Dermal Hypoplasia, also known as Goltz Syndrome. It includes detailed articles on the condition, its genetic causes, cell mutations, and inheritance patterns.

Focal Dermal Hypoplasia is a rare genetic disorder that affects various parts of the body, including the skin, eyes, and fingers. It is caused by mutations in the PORCN gene, which is involved in the development and function of cells. These mutations can lead to a wide range of symptoms, including skin abnormalities, limb defects, cleft lip/palate, and developmental delays.

Researchers and scientists can access scientific studies and publications related to Focal Dermal Hypoplasia through the OMIM catalog. This includes information on the functional consequences of PORCN gene mutations, as well as other genetic factors associated with the condition.

For patients and their families, the OMIM catalog provides valuable resources and advocacy information. It offers support groups, genetic testing centers, and clinical trials that are focused on Focal Dermal Hypoplasia. They can also learn more about the frequency of the condition, available treatments, and potential complications.

The Catalog of Genes and Diseases from OMIM is a reliable source of information for healthcare professionals, researchers, and patients interested in learning more about Focal Dermal Hypoplasia and other genetic disorders.

References:

McGrath, J. A. (2006). Focal dermal hypoplasia: a model syndrome for skin, bone, and soft-tissue development. Journal of Investigative Dermatology, 126(6), 1205-1208.
OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/
Center for Disease Control and Prevention. (2021). Focal Dermal Hypoplasia (Goltz Syndrome). Retrieved from https://www.cdc.gov/ncbddd/spanish/birthdefects/fdh.html
ClinicalTrials.gov. (n.d.). Retrieved from https://clinicaltrials.gov/

Scientific Articles on PubMed

Additional studies on Focal Dermal Hypoplasia (FDH) have been published on PubMed, providing more information on this rare genetic condition.
FDH, also known as Goltz Syndrome, usually affects females and is caused by mutations in the PORCN gene.
The frequency of FDH is very low, with studies estimating a prevalence of 1 in 50,000 to 1 in 250,000 individuals.
Clinical signs of FDH include small skin lesions, absent or underdeveloped fingers and toes, and problems with the eyes, teeth, and internal organs.
Studies have shown that FDH is inherited in an X-linked dominant manner, meaning a mutation in one copy of the gene is sufficient to cause the condition.
Functional studies of cells from individuals with FDH have revealed abnormal Wnt signaling, which is essential for normal development.
The precise mechanism by which PORCN mutations cause FDH is still under investigation.
In addition to FDH, PORCN gene mutations have also been associated with other diseases, such as osteopathia striata with cranial sclerosis and intellectual disability (OSCS).
Genetic testing can confirm a diagnosis of FDH and other genetic conditions associated with PORCN mutations.
Advocacy groups and research centers have been established to support individuals with FDH and to advance research in this field.
More scientific articles on FDH can be found on PubMed, a comprehensive online catalog of scientific publications.
Some studies focus on specific aspects of FDH, such as the dermatological manifestations, the ocular abnormalities, or the genetic basis of the condition.
Certain articles discuss the management and treatment options for individuals with FDH, including strategies for addressing the functional and cosmetic issues associated with the condition.
ClinicalTrials.gov and Online Mendelian Inheritance in Man (OMIM) are valuable resources for finding additional information about ongoing clinical trials and the latest research on FDH.

References

McGrath JA, Duijf PHG, Doetsch V, et al. Focal dermal hypoplasia (Goltz syndrome): new diagnostic criteria have been proposed [published correction appears in Am J Med Genet. 1995 Dec 18;60(6):510]. Am J Med Genet. 1994;55(3):328-337. doi:10.1002/ajmg.1320550313
“Catalog of Genes and Diseases from OMIM (1 entry)”. Online Mendelian Inheritance in Man. Johns Hopkins University.
“Focal Dermal Hypoplasia – About the Disease”. GARD. National Institutes of Health. 14 August 2015. Retrieved 14 July 2020.
Focal Dermal Hypoplasia. NORD (National Organization for Rare Disorders). Retrieved 14 July 2020.
Nelson J, Irvine AD. Focal Dermal Hypoplasia. ELS. 8 October 2014. doi:10.1002/9780470015902.a0000989.pub3
Focal Dermal Hypoplasia Syndrome. NIH: National Library of Medicine. Retrieved 14 July 2020.