Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) is a rare genetic condition that affects the skin and limbs. It is a congenital disorder, meaning it is present from birth. The syndrome is named after the specific symptoms and characteristics it causes: hemidysplasia (abnormal development on one side of the body), ichthyosiform erythroderma (scaly and red skin), and limb defects.

This condition is associated with a gene called NSDHL, located on the X chromosome. It is inherited in an X-linked dominant manner, which means that a mutation in only one copy of the gene is sufficient to cause the syndrome. However, most cases of CHILD syndrome are not inherited and occur due to new mutations in the NSDHL gene.

The frequency of CHILD syndrome is unknown, as it is a rare condition. It has been reported in both males and females, although it appears to be more common in females. The syndrome can cause a range of limb defects, such as shortening or absence of fingers or toes. The skin abnormalities can be severe, causing thickened, scaly skin that may resemble a fish’s scales.

Diagnosis of CHILD syndrome is typically based on the characteristic symptoms and clinical findings. Genetic testing can confirm the presence of a mutation in the NSDHL gene. Additional testing may be done to rule out other causes of the symptoms.

There is currently no cure for CHILD syndrome, but treatment focuses on managing the symptoms and associated complications. This may include moisturizing the skin, providing physical therapy for limb defects, and addressing any other medical issues that may arise. Research and rare disease advocacy organizations may provide support, resources, and information for patients and their families.

References:

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– OMIM (Online Mendelian Inheritance in Man): [citation]

– PubMed and PubMed Central: [citation]

– GeneReviews: [citation]

– ClinicalTrials.gov: [citation]

Frequency

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare condition that occurs with a frequency of less than 1 in 400,000 births.

The syndrome is predominantly inherited in an X-linked dominant manner, which means that affected individuals are usually female. However, rare cases of male inheritance have been reported. The gene associated with CHILD syndrome is located on the X chromosome and is called NSDHL (NAD(P) dependent steroid dehydrogenase-like).

The condition is characterized by a variety of symptoms, including ichthyosiform erythroderma (thickened and scaling skin), unilateral limb defects (such as shortening or complete absence of fingers or toes on one side of the body), and other associated abnormalities.

For more information about the frequency of CHILD syndrome, you can refer to the scientific articles available on PubMed or consult the OMIM catalog entry for this condition. Additional information can also be found on genetic testing websites, such as GeneTests.org.

Support and advocacy organizations, such as the CHILD Syndrome Support Center, can provide resources and support for families affected by this rare condition. ClinicalTrials.gov may also have information on any ongoing studies or clinical trials related to CHILD syndrome.

Learn more about the causes and inheritance of CHILD syndrome and related syndromes from reputable sources and scientific references. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis and management of this condition.

Causes

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) is a rare genetic syndrome. It is caused by mutations in the NSDHL gene, which is involved in the production of cholesterol. The condition is inherited in an X-linked recessive manner, which means that it mainly affects males.

The NSDHL gene provides instructions for making an enzyme that is essential for the production of cholesterol. Cholesterol is a waxy substance that is found in all cells of the body and is necessary for their normal function. Mutations in the NSDHL gene disrupt the production of this enzyme, leading to a buildup of cholesterol precursors called sterols. This buildup interferes with the development and function of various tissues and organs, resulting in the characteristic features of CHILD syndrome.

The exact mechanism by which the NSDHL gene mutations cause the specific features of CHILD syndrome is still under investigation. Researchers believe that the accumulation of sterols in affected individuals disrupts the normal development of the skin and limbs, leading to the ichthyosiform erythroderma and limb defects that are characteristic of the condition.

In addition to mutations in the NSDHL gene, there may be other genes or genetic factors that contribute to the development of CHILD syndrome. Further research is needed to fully understand the underlying causes of this rare condition.

Learn more about the gene associated with Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) is a rare X-linked genetic condition that causes abnormalities in the skin and limbs. The condition is characterized by the presence of erythroderma, or red and scaly skin, and limb defects such as hypoplasia, syndactyly, and brachydactyly.

Research studies have identified that mutations in the NSDHL gene, located on the X chromosome, are responsible for causing CHILD syndrome. The NSDHL gene provides instructions for producing an enzyme involved in the production of cholesterol and other sterols. Mutations in this gene can disrupt the normal production of these substances, leading to the characteristic features of the condition.

The frequency of CHILD syndrome is not well-known, as it is a rare condition. It primarily affects males, as the gene is located on the X chromosome and is inherited in an X-linked recessive manner. However, there have been a few reported cases of females with the condition, likely due to skewed X-chromosome inactivation.

For patient support and additional information about CHILD syndrome, advocacy organizations such as the National Organization for Rare Disorders (NORD) and the CHILD Syndrome Support Network can provide resources and connect individuals to support networks.

ClinicalTrials.gov may have information on ongoing research studies and clinical trials related to CHILD syndrome. Searching for “Congenital hemidysplasia with ichthyosiform erythroderma and limb defects” on the website can provide information on any current studies.

The Online Mendelian Inheritance in Man (OMIM) database is also a valuable resource for information on genes associated with genetic diseases. Searching for the NSDHL gene on OMIM can provide more details on its role in CHILD syndrome and other related conditions.

Scientific articles and research papers may also provide further insights into the genetic causes and clinical features of CHILD syndrome. PubMed is a useful resource for accessing these articles, using keywords such as “CHILD syndrome” and “NSDHL gene” to find relevant publications.

Resources	Website
National Organization for Rare Disorders (NORD)	rarediseases.org
CHILD Syndrome Support Network	child-syndrome.org
ClinicalTrials.gov	clinicaltrials.gov
Online Mendelian Inheritance in Man (OMIM)	omim.org
PubMed	pubmed.ncbi.nlm.nih.gov

It is important for healthcare providers and researchers to continue studying the NSDHL gene and its association with congenital hemidysplasia with ichthyosiform erythroderma and limb defects to gain a better understanding of the condition and develop potential treatment options.

Inheritance

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) is a rare genetic condition that is primarily inherited in an X-linked manner. This means that the condition is caused by mutations in the X chromosome, and therefore affects males more frequently than females.

Research on the inheritance pattern of CHILD syndrome is still ongoing, and the exact genes and mechanisms involved in its development are not yet fully understood. However, scientists have identified genes that are associated with the syndrome, such as NSDHL or NAD(P) dependent steroid dehydrogenase-like, which is located on the X chromosome.

Multiple scientific articles published in PubMed and the Online Mendelian Inheritance in Man (OMIM) database provide additional information about the genetic causes and inheritance of CHILD syndrome.

The frequency of CHILD syndrome is currently unknown, and it is considered a rare condition. The CHILD Syndrome Center is a valuable resource for patient support, advocacy, and information on this and other congenital diseases.

Genetic testing and clinical trials registered on ClinicalTrials.gov may provide further insight into the inheritance and underlying genetic mechanisms of CHILD syndrome. Additional studies are needed to fully understand the complex inheritance patterns and genetic factors associated with the condition.

It is important for individuals and families affected by CHILD syndrome to seek appropriate medical care and genetic counseling. Healthcare professionals can provide information about available resources, patient support groups, and ongoing research efforts in this field.

For more information and references on the inheritance and genetic factors of CHILD syndrome, please refer to the scientific articles and resources listed in the citation section.

Causes: NSDHL gene mutations

Inheritance: X-linked

Associated Syndromes: CHILD syndrome

Genes: NSDHL

References:

• Bornholdt, D., Oeffner, F., König, A., Happle, R., Alanay, Y., Ascherman, J., . . . Grzeschik, K. H. (2009). Mutational spectrum of NSDHL in CHILD syndrome: Study of 15 patients reveals new mutations, prenatal manifestations and parallels with atherosclerosis. British Journal of Dermatology, 160(4), 627-634. doi:10.1111/j.1365-2133.2008.08999.x
• “CHILD Syndrome – Genetics Home Reference – NIH.” U.S. National Library of Medicine. The Genetic and Rare Diseases Information Center. Accessed December 16, 2021. https://ghr.nlm.nih.gov/condition/child-syndrome#inheritance
• “Congenital hemidysplasia with ichthyosiform erythroderma and limb defects – Genetics Home Reference – NIH.” U.S. National Library of Medicine. The Genetic and Rare Diseases Information Center. Accessed December 16, 2021. https://ghr.nlm.nih.gov/condition/congenital-hemidysplasia-with-ichthyosiform-erythroderma-and-limb-defects#inheritance

Other Names for This Condition

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects is also known by several other names, including:

• Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome
• CHILD syndrome
• Congenital ichthyosiform erythroderma – limb reduction defects syndrome
• Hemidysplasia, ichthyosiform erythroderma, and limb defects
• Clark-Donovan syndrome

Additional Information Resources

Here are some additional resources that can provide more information about Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD) syndrome:

• Online Mendelian Inheritance in Man (OMIM): This comprehensive database provides detailed information on the genetic causes, clinical features, and inheritance patterns of various diseases and syndromes. The OMIM entry for CHILD syndrome (OMIM #308050) can be found here.
• ClinicalTrials.gov: This online registry provides information on ongoing and completed clinical studies related to various medical conditions, including CHILD syndrome. To learn more about clinical trials and research studies on CHILD syndrome, visit the ClinicalTrials.gov website here.
• PubMed: This database contains a vast collection of scientific articles and research papers related to medical conditions. Searching for keywords like “CHILD syndrome” or “congenital hemidysplasia with ichthyosiform erythroderma and limb defects” can provide more information on the latest studies and findings. Access PubMed here.
• Genetic and Rare Diseases Information Center (GARD): GARD provides reliable information, resources, and advocacy for individuals and families affected by rare genetic diseases. The GARD webpage on CHILD syndrome can be accessed here.
• Bornholdt D et al. (2009). “CHILD syndrome: more than a skin disease.” European Journal of Human Genetics, 17(7), 902-909. This scientific article provides a comprehensive overview of the clinical features, genetic causes, and inheritance patterns of CHILD syndrome. The article can be accessed on the European Journal of Human Genetics website or through PubMed.

These resources will help you learn more about CHILD syndrome and provide valuable information for patients, families, and healthcare professionals.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of patients with Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome. It allows for the identification of specific gene mutations that are associated with this rare genetic disorder.

There are several genes that have been exclusively linked to CHILD syndrome. The most common gene involved is NSDHL, which is located on the X chromosome and has been found to be mutated in the majority of patients with this condition.

The frequency of CHILD syndrome is estimated to be approximately 1 in 400,000 births. It is important to note that this condition is inherited in an X-linked dominant manner, meaning that both males and females can be affected, but males tend to have more severe symptoms.

Genetic testing can be performed to confirm a diagnosis of CHILD syndrome. This testing typically involves sequencing the NSDHL gene to identify any mutations or variations that may be present.

Additional genetic testing may be necessary to rule out other potential causes of the patient’s symptoms. This can include testing for other syndromes or diseases that are associated with similar skin and limb defects.

There are several resources available for individuals seeking more information about genetic testing for CHILD syndrome. These include scientific articles, research studies, and online databases. Some recommended resources include OMIM (Online Mendelian Inheritance in Man), Genet Testing, PubMed, and the GeneTests GeneReviews.

Patient advocacy and support organizations can also provide valuable information and resources for individuals and families affected by CHILD syndrome. These organizations can offer emotional support, educational materials, and assistance in finding healthcare providers who specialize in treating this rare condition.

ClinicalTrials.gov can be another helpful resource for individuals interested in participating in research studies or clinical trials related to CHILD syndrome. These studies can provide access to cutting-edge treatments and contribute to the understanding of the underlying causes of this condition.

1. Bornholdt D, et al. Hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) – a case report and review of the literature. Nat J Health Sci. 2017;7(2):41-48.
2. Genet Testing. CHILD syndrome. Available at: [URL]
3. OMIM. Gene and phenotype information. Available at: [URL]
4. PubMed. Scientific articles and research studies on CHILD syndrome. Available at: [URL]
5. GeneTests GeneReviews. CHILD syndrome. Available at: [URL]

References

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides information about genetic and rare diseases for patients, families, healthcare professionals, and researchers. Our goal is to provide accurate and up-to-date information to help individuals understand these diseases, find appropriate support, and access resources.

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, also known as CHILD syndrome, is a rare genetic condition. It is exclusively inherited in an X-linked dominant manner, meaning that the mutated gene responsible for the condition is located on the X chromosome.

This syndrome is associated with a mutation in the NSDHL gene, which is involved in the production of cholesterol. The exact mechanism through which this mutation causes the specific symptoms of congenital hemidysplasia with ichthyosiform erythroderma and limb defects is not fully understood.

Patients with CHILD syndrome are born with a characteristic pattern of skin abnormalities, including thickened and scaly skin on one side of the body, called ichthyosiform erythroderma. They may also have limb defects, such as missing digits or underdeveloped limbs.

Although this condition is rare, GARD aims to provide comprehensive and reliable information about it. Through our resources, you can learn more about the causes, symptoms, diagnosis, and management of congenital hemidysplasia with ichthyosiform erythroderma and limb defects.

Our website offers a variety of resources, including articles, references to scientific studies, and links to other organizations and support groups. These resources can help individuals connect with others affected by the syndrome, find clinical trials, access genetic testing, and learn about current research and advocacy efforts.

ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials for this condition. By searching for the term “congenital hemidysplasia with ichthyosiform erythroderma and limb defects” or related keywords, you can find information about current studies and potentially participate in research that may advance the understanding and treatment of this syndrome.

In summary, GARD provides information and support for individuals and families affected by rare genetic diseases such as congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Through our resources, you can learn about the genetics, inheritance patterns, clinical features, and available treatments for this condition. We strive to improve the lives of patients by providing accurate and reliable information.

Patient Support and Advocacy Resources

Patients diagnosed with Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, also known as CHILD syndrome, may benefit from additional support and resources. Being a rare condition, it is important for patients and their families to have access to information and support from patient advocacy organizations and resources.

Here are some resources that can provide support, information, and advocacy for patients with CHILD syndrome:

• Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and provides information about rare diseases. They offer resources for patients, their families, and healthcare providers. GARD provides information about CHILD syndrome, its clinical features, inheritance, associated genes, and more. Visit their website at https://rarediseases.info.nih.gov/.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive and authoritative resource that provides information about genetic and inherited disorders. They have a detailed entry for CHILD syndrome that includes information about the condition, associated genes, clinical features, and references to scientific articles. Learn more about CHILD syndrome on OMIM’s website at https://www.ncbi.nlm.nih.gov/omim.
• PubMed: PubMed is a database of scientific articles in the field of medicine and genetics. It can be a valuable resource for finding research studies, case reports, and clinical trials related to CHILD syndrome. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/.
• Children’s Skin Disease Foundation: This organization provides support and resources for children with skin diseases and their families. They offer educational materials, patient stories, and information about different skin conditions. While not exclusively focused on CHILD syndrome, their resources can still be helpful. Visit their website at https://childrencsdf.org/.

For patients interested in genetic testing or participating in research studies or clinical trials related to CHILD syndrome, the following resources can be helpful:

• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials conducted around the world. It provides information about ongoing and completed trials. Patients can search for clinical trials related to CHILD syndrome by visiting https://www.clinicaltrials.gov/.
• Bornholdt Clinical Genomics Laboratory: This laboratory offers genetic testing for CHILD syndrome and other rare genetic disorders. They specialize in identifying genetic causes of skin diseases and limb defects. Visit their website for more information about genetic testing at https://www.bornholdtlab.net/.

These resources can provide valuable support, information, and advocacy for patients diagnosed with Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), as well as their families. It is important to reach out to these organizations and resources to learn more about the condition, connect with others, and access the support and resources needed.

References:

1. Bornholdt D, Oeffner F, König A, et al. Mutational spectrum of PIGL in patients with Mabry syndrome. Eur J Hum Genet. 2019;27(2):296-304. doi:10.1038/s41431-018-0278-z. (PubMed)
2. Bornholdt D, Atkinson TP, Bouadjar B, et al. Genetic counseling for ichthyosis syndromes. Verma AK, ed. J Investig Dermatol Symp Proc. 2010;15(1):57-63. doi:10.1038/jidsymp.2010.7. (PubMed)
3. OMIM Entry – #308050 – CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS; CHILD SYNDROME. Johns Hopkins University, Baltimore, MD: McKusick-Nathans Institute of Genetic Medicine. 2021. (https://www.ncbi.nlm.nih.gov/omim)
4. Genetic and Rare Diseases Information Center. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. National Center for Advancing Translational Sciences. 2020. (https://rarediseases.info.nih.gov/)

Research Studies from ClinicalTrialsgov

The website ClinicalTrialsgov provides a comprehensive catalog of research studies, specifically focused on rare diseases. It supports research on the genetic causes, inheritance patterns, and associated syndromes of congenital hemidysplasia with ichthyosiform erythroderma and limb defects.

Through ClinicalTrialsgov, patients and researchers can find information on clinical trials, research studies, and genetic testing options for this condition. These studies aim to provide more insight into the underlying genetic basis and mechanisms of the syndrome, as well as potential treatment options.

Genetic studies have identified that congenital hemidysplasia with ichthyosiform erythroderma and limb defects is an X-linked condition caused by mutations in the gene. Further research is needed to understand the exact role of this gene and its impact on the syndrome’s characteristics.

Scientific articles available on ClinicalTrialsgov, PubMed, and OMIM provide additional information on the condition. These resources offer references to patient cases, research studies, and genetic testing information.

The syndrome is characterized by various limb defects, ichthyosiform erythroderma (a severe skin condition), and cholesterol abnormalities. Research studies aim to investigate the occurrence, frequency, and underlying causes of these features.

The genet center is one of the research centers exclusively focused on rare syndromes like congenital hemidysplasia with ichthyosiform erythroderma and limb defects. They provide valuable resources and advocacy for patients and families affected by this condition.

These research studies and clinical trials contribute to a better understanding of the syndrome, its genetic underpinnings, and potential treatment options. They offer hope for improved outcomes and quality of life for individuals affected by this rare condition.

Catalog of Genes and Diseases from OMIM

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects is a rare genetic condition that occurs in newborns. This condition causes abnormalities in the development of the skin and limbs. It is also known as CHILD syndrome or X-linked dominant chondrodysplasia punctata syndrome 2.

The exact cause of this condition is not yet fully understood. However, research has identified several genes that may be involved in its development. These genes are inherited in an X-linked dominant inheritance pattern.

Genetic testing can be done to confirm a diagnosis of congenital hemidysplasia with ichthyosiform erythroderma and limb defects. This testing can identify mutations in the genes associated with this condition.

There are currently no specific treatments for this condition. However, there are supportive measures that can be taken to manage the symptoms, such as regular moisturizing of the skin and physical therapy for limb defects.

More information about congenital hemidysplasia with ichthyosiform erythroderma and limb defects can be found in scientific articles and studies. The OMIM database is a valuable resource for accessing these articles and learning more about this condition.

References:

• OMIM – https://www.omim.org
• PubMed – https://www.ncbi.nlm.nih.gov/pubmed
• ClinicalTrials.gov – https://www.clinicaltrials.gov

Scientific Articles on PubMed

PubMed is a database of scientific articles on various topics, including rare genetic syndromes such as Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Here you can find information about the causes, inheritance patterns, clinical presentations, and testing associated with this rare syndrome.

Some of the scientific articles available on PubMed include:

• Citation: Bornholdt et al. “Congenital hemidysplasia with ichthyosiform erythroderma and limb defects: a new syndrome and its relationship to the CHILD syndrome.” Genet Med. 2013;15(11):922-927.
• Citation: GeneReviews. “Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects.” 2004 Jan 20 [Updated 2019 Oct 3]. 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/NBK26471/
• Citation: Bayrakli et al. “A case of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome associated with x-linked ichthyosis presenting mutation in the STS gene.” Indian J Dermatol. 2014;59(6):634.

These articles provide valuable information about the clinical presentation, genetic testing, inheritance patterns, and management of the condition. They also include references to other studies and resources that can facilitate further research.

Furthermore, clinicaltrialsgov and OMIM can be additional resources for learning about ongoing research and clinical trials associated with this syndrome. These resources may provide more insights into the frequency of the condition, genes involved, and potential treatments being explored.

Overall, PubMed is a valuable platform for accessing scientific articles related to rare genetic syndromes, including Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. It supports research, clinical decision-making, and advocacy efforts for patients and their families.

References

• This article is based on OMIM – 308050 inherited from the Catalog of Human Genes and Genetic Disorders.
• Articles on PubMed have been used as additional resources for more information on this condition.
• The ClinicalTrials.gov database may provide information on ongoing clinical trials or testing for this syndrome.
• The Genetics Home Reference website provides detailed information about inherited diseases and syndromes.
• The National Center for Biotechnology Information (NCBI) offers access to various scientific papers and studies related to congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
• The ResearchGate platform connects researchers and allows them to share their findings and contribute to scientific research.
• The National Organization for Rare Disorders (NORD) provides information and advocacy resources for rare diseases.
• Bornholdt D, Oeffner F, König A, et al. X-linked dominant chondrodysplasia punctata: comprehensive overview of 13 novel genetic variants and genotype-phenotype correlations in 73 patients. Genet Med. 2017;19(9):1046-1051. doi:10.1038/gim.2017.14
• Genest D, Oeffner F, Begemann M, et al. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) in a mosaic male with two affected cell lines. Eur J Med Genet. 2020;63(10):104033. doi:10.1016/j.ejmg.2019.104033
• Happle R. X-linked dominant chondrodysplasia punctata. Orphanet J Rare Dis. 2006;1:39. doi:10.1186/1750-1172-1-39