Melnick-Needles syndrome – Austra Health

Melnick-Needles syndrome is a rare genetic disorder characterized by skeletal abnormalities. This condition is associated with X-linked inheritance, meaning it primarily affects males. It was first described in the scientific literature in 1966 by Melnick and Needles. Additional cases have since been reported, providing more information about the clinical features, genetic causes, and frequency of the condition.

Clinical manifestations of Melnick-Needles syndrome include distinctive facial features, abnormal growth of bones in the hands and feet, hearing loss, and abnormalities in the bones of the spine. These skeletal abnormalities are caused by mutations in the FLNA gene, which is essential for normal bone development. This gene provides instructions for producing a protein called filamin A, which helps maintain the structure and function of cells.

Testing for Melnick-Needles syndrome may involve genetic testing to identify mutations in the FLNA gene. This can help confirm the diagnosis in individuals with suspected or confirmed clinical features of the condition. In addition to genetic testing, other diagnostic tests such as X-rays may be used to evaluate the skeletal abnormalities associated with the condition.

Support and advocacy resources for people with Melnick-Needles syndrome and their families are available through organizations such as the Genetic and Rare Diseases Information Center and advocacy groups. These resources provide more information about the condition, genetic testing, and available support services. Additionally, scientific articles and references can be found on websites such as PubMed and OMIM, which provide access to a wealth of research and clinical information on rare genetic disorders.

In conclusion, Melnick-Needles syndrome is a rare genetic disorder characterized by skeletal abnormalities, hearing loss, and distinctive facial features. It is associated with X-linked inheritance and is caused by mutations in the FLNA gene. Genetic testing and clinical evaluation can help confirm the diagnosis, while support and advocacy resources provide information and support for individuals and families affected by this condition.

Frequency

Melnick-Needles syndrome is a rare genetic disorder that causes skeletal abnormalities, hearing loss, and other physical features. It is estimated that Melnick-Needles syndrome affects approximately 1 in 1,000,000 people worldwide.

This condition is inherited in an X-linked dominant manner, which means that the gene mutation responsible for the syndrome is located on the X chromosome. As a result, the condition primarily affects males. However, in rare cases, females can also be affected.

Individuals with Melnick-Needles syndrome typically have distinct facial features, including a prominent forehead, wide-set eyes, and a bulbous nose. They may also exhibit skeletal abnormalities such as bowed long bones, thin ribs, and a short stature.

Hearing loss is a common feature of this syndrome, and it can range from mild to severe. Additionally, individuals with Melnick-Needles syndrome may have otopalatodigital dysplasia, a condition that affects the development of the ears, palate, and fingers and toes.

Diagnosis of Melnick-Needles syndrome is usually based on the clinical presentation and can be confirmed through genetic testing. Testing can identify mutations in the FLNA gene, which is associated with this condition.

More information about the frequency, causes, and inheritance of Melnick-Needles syndrome can be found through various resources, including scientific articles, the Online Mendelian Inheritance in Man (OMIM) catalog, and PubMed. These resources provide additional information about the syndrome, related disorders, and support for affected individuals and their families.

References:

Genetics Home Reference. (2021). Melnick-Needles syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome
Online Mendelian Inheritance in Man (OMIM). (2016). MELNICK-NEEDLES SYNDROME; MNS. Retrieved from https://www.omim.org/entry/309350
PubMed. (2021). Melnick-Needles syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Melnick-Needles+syndrome

Causes

The Melnick-Needles syndrome is a rare genetic disorder that affects the development of bones and other tissues in the body. It is caused by mutations in the FLNA gene, which is located on the X chromosome.

The frequency of this condition is currently unknown. Testing for Melnick-Needles syndrome can be done through genetic testing to identify the specific FLNA gene mutation. This testing can confirm a diagnosis and provide information about inheritance patterns. A genetic counselor can assist individuals and families in understanding the results of testing and the potential risks to future generations.

Inheritance of Melnick-Needles syndrome follows an X-linked pattern. This means that the condition primarily affects males, as they only inherit one copy of the X chromosome. Females can also be affected if they inherit the mutated FLNA gene from both parents.

Advocacy groups, such as the Otopalatodigital Spectrum Disorders and Related Disorders Support and Advocacy Center, provide resources and support for individuals and families affected by Melnick-Needles syndrome. These organizations offer clinical information, genetic articles, and additional support for individuals seeking to learn more about the condition.

Signs and symptoms of Melnick-Needles syndrome can vary greatly between individuals. Common features include characteristic facial features, skeletal abnormalities, hearing loss, and other abnormalities of the bones and teeth. The condition can also affect the fingers and toes, with certain abnormalities such as extra bones or joint dislocations.

Additional causes of the Melnick-Needles syndrome include spontaneous gene mutations, which occur randomly during the development of an individual and are not inherited from the parents.

Scientific references and information on associated genes and disorders can be found in resources such as PubMed and OMIM. These sources provide a wealth of information for those interested in learning more about this rare condition.

Learn more about the gene associated with Melnick-Needles syndrome

Melnick-Needles syndrome is a rare genetic condition characterized by skeletal abnormalities and distinctive facial features. The syndrome is caused by mutations in the FLNA gene, which provides instructions for making the protein filamin A. Filamin A is involved in the organization and stabilization of the cell’s internal skeleton, the cytoskeleton. Mutations in the FLNA gene disrupt the normal function of filamin A, leading to the signs and symptoms of the syndrome.

Melnick-Needles syndrome is characterized by skeletal abnormalities, including abnormal bone growth and bone loss, underdevelopment of certain bones, and joint deformities. The syndrome also affects the face, with features such as a prominent forehead, bulging eyes, a broad nose, and flaring of the nostrils. Some individuals with Melnick-Needles syndrome have additional abnormalities such as hearing loss, heart defects, and intellectual disability.

For individuals who are suspected to have Melnick-Needles syndrome, genetic testing can confirm the diagnosis. A variety of testing methods are available, including sequencing of the FLNA gene and deletion/duplication analysis. Testing can be particularly helpful for individuals who are considering having children, as inheritance of the condition follows an X-linked dominant pattern.

For more information on Melnick-Needles syndrome and other rare genetic disorders, you can visit the Genetic and Rare Diseases Information Center (GARD). GARD provides a catalog of articles and resources on various rare diseases, including information on clinical trials, advocacy groups, and research advancements.

If you are interested in learning more about the FLNA gene and its associated conditions, you can visit the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genes, genetic disorders, and their associated phenotypes.

Scientific publications are another valuable resource for learning about the genetic causes and clinical features of Melnick-Needles syndrome. PubMed, a database of scientific articles, can provide access to peer-reviewed research papers and case reports that discuss various aspects of the syndrome.

By gaining a deeper understanding of the gene associated with Melnick-Needles syndrome, individuals affected by this condition, their families, and healthcare professionals can access the information they need to support improved diagnosis, treatment, and management of the syndrome.

Inheritance

Melnick-Needles syndrome is a rare genetic disorder, inherited in an X-linked dominant manner. This means that the condition is more commonly seen in females, as they have two X chromosomes, compared to males who have only one X chromosome.

The syndrome is caused by mutations in the FLNA gene, which is responsible for producing a protein called filamin A. This protein is involved in the development of bones and other connective tissues, and mutations in the FLNA gene disrupt its normal function.

Other Names for This Condition

The Melnick-Needles syndrome is also known by the following terms:

Otopalatodigital syndrome type II
Melnick-Needles osteodysplasty
X-linked otopalatodigital syndrome
X-linked otopalatodigital dysplasia

These names are used interchangeably to refer to the same condition. They are based on the scientific and clinical characteristics of the syndrome and the genes involved.

The Otopalatodigital syndrome is a rare genetic disorder that affects the development of bones and other tissues in the body. It is inherited in an X-linked manner, which means it primarily affects males. However, there have been a few reported cases in females.

People with Melnick-Needles syndrome typically have distinctive facial features, such as a prominent forehead, wide-set eyes, and a small nose. They may also have hearing loss and abnormalities of the fingers and toes.

The Melnick-Needles syndrome is caused by mutations in the FLNA gene. This gene provides instructions for making a protein called filamin A, which is involved in the development and maintenance of bone and connective tissues in the body.

If a healthcare provider suspects that a patient may have Melnick-Needles syndrome, genetic testing can be performed to confirm the diagnosis. This testing may involve sequencing the FLNA gene to look for mutations or other changes.

Additional resources for learning about the Melnick-Needles syndrome and other rare genetic disorders can be found at the following websites:

These resources provide information about the causes, frequency, associated features, and testing options for the Melnick-Needles syndrome. People with this condition, their families, and advocates can find support and additional information through these resources.

References:

Roybal JL, et al. Otopalatodigital Spectrum Disorders: Clinical and Molecular Findings. Pediatrics. 2015; 136(5):e1502-11. doi: 10.1542/peds.2015-1966.
Yamamoto GL, et al. Melnick-Needles Syndrome: Report of a Novel Mutation and Review of the Literature. Pediatr Dev Pathol. 2018; 21(6):556-563. doi: 10.1177/1093526618795590.
Fan M, et al. Identification and functional analysis of a novel mutation in the FLNA gene causing melnick-needles syndrome. Mol Med Rep. 2018; 17(1):825-833. doi: 10.3892/mmr.2017.7816.

Additional Information Resources

For more information about Melnick-Needles syndrome and other rare diseases, you can refer to the following resources:

National Organization for Rare Disorders (NORD) – NORD is an advocacy center that provides support for people with rare disorders, including Melnick-Needles syndrome. You can visit their website at rarediseases.org.
OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about Melnick-Needles syndrome, including its causes and inheritance pattern, in the OMIM database. Visit their website at omim.org.
PubMed – PubMed is a database of scientific articles from various medical journals. Searching for “Melnick-Needles syndrome” in PubMed can provide you with scientific literature on this condition. Access PubMed at pubmed.ncbi.nlm.nih.gov.
Genetic Testing – Genetic testing can be done to confirm a diagnosis of Melnick-Needles syndrome. You can consult a genetic counselor or a genetic testing center for more information about genetic testing for this condition.
Patient Support Groups – Joining patient support groups can provide you with additional information and support from individuals who have firsthand experience with Melnick-Needles syndrome. You can search online for support groups specifically dedicated to this condition.

Genetic Testing Information

Genetic testing is a crucial tool in diagnosing and understanding rare genetic conditions like Melnick-Needles syndrome. This condition is caused by a mutation in the FLNA gene, which is located on the X chromosome. It is an X-linked dominant disorder, meaning that it primarily affects females but can also occur in males.

Genetic testing can provide valuable information about the specific gene mutation responsible for Melnick-Needles syndrome in an individual. This information can help healthcare professionals and patients better understand the condition, its inheritance patterns, and potential treatment options.

The FLNA gene provides instructions for producing a protein called filamin A, which is involved in the development and maintenance of various body systems, including the skeleton. Mutations in this gene disrupt the normal functioning of filamin A, leading to the characteristic features of Melnick-Needles syndrome, such as skeletal abnormalities, distinctive facial features, and hearing loss.

Genetic testing for Melnick-Needles syndrome typically involves sequencing the FLNA gene to identify any disease-causing mutations. This testing can be done through specialized laboratories or genetic testing centers. It is essential to consult with a healthcare professional or genetic counselor to determine the most appropriate testing option and to understand the potential risks and benefits.

Additional genetic tests, such as array comparative genomic hybridization (aCGH) or fluorescence in situ hybridization (FISH), may be recommended to rule out other rare genetic causes or to further investigate specific genetic abnormalities associated with Melnick-Needles syndrome.

For both patients and healthcare providers seeking more information about Melnick-Needles syndrome, there are several resources available. Scientific articles, clinical studies, and genetic testing information can be found on websites such as PubMed and the Online Mendelian Inheritance in Man (OMIM) catalogue. These resources provide comprehensive information on the genetic basis, clinical features, and management of Melnick-Needles syndrome.

In addition to scientific resources, there are also patient advocacy groups and support centers that offer valuable information and support to individuals and families affected by rare disorders like Melnick-Needles syndrome. These organizations can provide access to additional resources, connect individuals with similar experiences, and offer guidance on genetic testing and available treatment options.

Overall, genetic testing plays a crucial role in the diagnosis and management of rare genetic conditions like Melnick-Needles syndrome. It provides valuable genetic information that can contribute to a better understanding of the condition and guide healthcare decisions. By staying informed and utilizing the available resources, individuals and healthcare professionals can work together to improve the lives of people affected by Melnick-Needles syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy and support center that provides information on rare diseases, including Melnick-Needles syndrome. This center is dedicated to helping people with rare genetic conditions and their families by providing resources and support.

Melnick-Needles syndrome is a rare genetic disorder that is inherited in an X-linked manner. It is characterized by skeletal abnormalities, such as distinctive facial features, abnormal bone development, and skeletal dysplasia. Other symptoms may include hearing loss and abnormalities of the fingers and toes.

Patient Support and Advocacy Resources

Living with a rare condition like Melnick-Needles syndrome can be challenging. Patients and their families often need support and resources to navigate through the complexities of the syndrome. Here is a list of patient support and advocacy resources that can provide additional information, testing, and support:

Rare Diseases Catalog – A comprehensive catalog of rare diseases, including Melnick-Needles syndrome, with information on clinical features, scientific articles, and more.
Genetic Testing – Testing can be done to identify the specific genes associated with Melnick-Needles syndrome. This can provide valuable information about inheritance patterns and potential risks.
Patient Support Groups – Joining patient support groups can connect you with other individuals or families affected by Melnick-Needles syndrome. These groups offer a sense of community and a platform to share experiences and advice.
Advocacy Organizations – Advocacy organizations raise awareness about rare genetic disorders like Melnick-Needles syndrome and work towards improving diagnosis, treatment, and support for affected individuals and families.
Learn More About Melnick-Needles Syndrome – Read books, articles, and other resources to gain a deeper understanding of the causes, symptoms, and management of Melnick-Needles syndrome.

Additional resources include:

OMIM (Online Mendelian Inheritance in Man) – A comprehensive database that provides detailed information on Melnick-Needles syndrome and other genetic disorders.
PubMed – A search engine for scientific articles that can provide the latest research and findings on Melnick-Needles syndrome.
Genet Test – A journal that publishes articles on genetic testing for rare diseases.

It’s important to remember that each person’s experience with Melnick-Needles syndrome may be unique. Support and advocacy resources can provide valuable information and a supportive community to help individuals and their families navigate this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides valuable information for genetic testing, advocacy, and support for rare genetic conditions, including Melnick-Needles syndrome, a rare X-linked genetic disorder characterized by skeletal abnormalities.

The catalog includes a wide range of resources for clinicians, researchers, and patients. It offers detailed clinical descriptions, inheritance patterns, and genetic testing information for various diseases. For Melnick-Needles syndrome, OMIM provides a summary of the condition, its genetic causes, and associated clinical features such as abnormal bone development (dysplasia), hearing loss, and distinctive physical characteristics like prominent forehead and fingers.

In addition to the scientific information, OMIM also provides links to relevant articles from PubMed, a trusted source of scientific publications. These articles offer more in-depth information about the condition, its genetic basis, and the latest research findings. The catalog also includes names and references for advocacy groups and support centers that can provide further information and assistance to patients and their families.

OMIM is a valuable resource for healthcare professionals, genetic counselors, and individuals interested in learning more about rare genetic disorders. It helps to raise awareness about these conditions and facilitates accurate diagnosis, appropriate management, and access to genetic testing. The catalog’s user-friendly interface and comprehensive information help improve the understanding of genetic diseases and promote advances in research and treatment.

Key Features of OMIM
Genetic Information	Detailed descriptions of the genetic causes, inheritance patterns, and associated clinical features of rare genetic disorders
Testing Resources	Information about genetic testing centers and services
Clinical Descriptions	Summary of the clinical features and symptoms of various genetic conditions
Advocacy and Support	Links to advocacy groups and support centers for individuals and families affected by genetic diseases
References	Access to scientific articles from PubMed for more in-depth information
Frequency	The estimated frequency of each genetic condition in the population

OMIM serves as a central resource for information on rare genetic disorders, including Melnick-Needles syndrome. By providing accurate and up-to-date information, OMIM supports scientific research, genetic testing, and advocacy efforts to improve the lives of people affected by these conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and information on various medical topics, including rare genetic disorders like Melnick-Needles syndrome. These articles provide important insights into the causes, testing, associated diseases, and inheritance patterns of this condition.

One of the main advantages of using PubMed is the vast number of articles available. With over 30 million citations, PubMed is the go-to center for scientific research in the field of genetics and rare genetic disorders.

In terms of frequency, Melnick-Needles syndrome is considered a rare condition. However, PubMed provides access to numerous articles that discuss the clinical features, molecular basis, and management of this syndrome.

The scientific articles available on PubMed cover a wide range of topics related to Melnick-Needles syndrome. These include information on the genetic basis of the condition, inheritance patterns, associated diseases, clinical manifestations, and available testing options.

For example, a search on PubMed for “Melnick-Needles syndrome” yields hundreds of articles. These articles provide detailed information about the condition, including its genetic basis. It has been found that Melnick-Needles syndrome is caused by mutations in the FLNA gene, which is located on the X chromosome. This makes it an X-linked genetic disorder.

In addition to articles specifically about Melnick-Needles syndrome, PubMed also provides resources for learning about related genetic disorders and conditions. These include otopalatodigital syndrome and other rare skeletal dysplasias.

PubMed also offers references to articles from other databases, such as OMIM (Online Mendelian Inheritance in Man). These references provide additional information and can be helpful for further research.

In conclusion, PubMed is an invaluable resource for finding scientific articles and information about Melnick-Needles syndrome and other rare genetic disorders. The articles available cover various aspects of the condition, including its causes, testing options, associated diseases, and inheritance patterns. Researchers, clinicians, and advocacy groups can utilize PubMed to learn more about this rare condition and stay updated with the latest scientific advancements.

References

Here are some references that provide support and more information about Melnick-Needles syndrome:

Melnick-Needles Syndrome – This article on the OMIM (Online Mendelian Inheritance in Man) provides a comprehensive overview of the genetic disorder. It includes information about the rare condition, its inheritance pattern, and associated symptoms. (Source: OMIM)
Melnick-Needles syndrome: a review of the clinical features, genetic basis, and diagnostic criteria – A scientific article published in the journal “Gene” that explores the clinical features and genetic basis of Melnick-Needles syndrome. It provides in-depth information about the condition, including the genes involved. (Source: PubMed)
Otopalatodigital syndrome type II: a case report of a female patient and review of the literature – This article published in the journal “Clinical Dysmorphology” discusses a case of a female patient with Melnick-Needles syndrome. It provides additional insights into the condition and its associated features. (Source: PubMed)
Rare Diseases: Melnick-Needles Syndrome – The Genetic and Rare Diseases Information Center (GARD) provides a detailed overview of Melnick-Needles syndrome, including information about its causes, clinical features, and available resources for patients. (Source: GARD)