Adams-Oliver syndrome – Austra Health

The Adams-Oliver syndrome (AOS) is a rare genetic condition caused by mutations in certain genes. It is characterized by a combination of abnormalities, including scalp defects and limb abnormalities. The condition was first described by doctors Adams and Oliver in 1945, hence the name.

The genetic basis of AOS has been extensively studied and several genes have been identified as causative factors. These genes are involved in the regulation of bone development and certain proteins, such as DLL4, ARHGAP31, DOCK6, and others, have been found to be mutated in affected individuals.

AOS is inherited in an autosomal-recessive manner, which means that individuals inherit two copies of the gene for AOS, one from each parent, in order to be affected. However, additional factors may also contribute to the development of the syndrome.

Signs and symptoms of AOS vary widely from patient to patient, but commonly include scalp defects, such as missing or abnormal skin, and limb abnormalities, such as missing fingers or toes. Other features, such as heart defects and neurodevelopmental delays, may also be present.

For more information on the genetics, clinical features, and management of Adams-Oliver syndrome, please refer to the OMIM database, PubMed, or other scientific articles and references available at your local research center or online.

Support groups and advocacy organizations, such as the Adams-Oliver Syndrome Foundation, can also be a valuable resource for learning more about the condition, connecting with other affected individuals and families, and finding support in managing the unique challenges associated with AOS.

Frequency

The Adams-Oliver syndrome is a rare condition that is associated with a variety of additional clinical problems. It is caused by defects in certain genes, including DLL4, DOCK6, ARHGAP31, and ZENKER. The condition is inherited in an autosomal-recessive manner, meaning that both copies of the gene must be defective for the condition to be present.

The frequency of Adams-Oliver syndrome is not well established, as it is a rare condition. However, it is estimated to occur in approximately 1 in 225,000 live births.

Scientific articles and resources on Adams-Oliver syndrome provide more information about the frequency and associated genes. Clinical studies have reported a higher frequency of the condition in certain populations, such as the Amish community in Pennsylvania and the South African population.

Genetic testing can confirm the diagnosis of Adams-Oliver syndrome in affected individuals. In some cases, the genetic defect may not be identified despite testing. This could be due to limitations in current testing methods or the involvement of other genes that have not yet been identified.

References:

Alkuraya FS, et al. (2006). Mutations in the gene encoding the ligand for Notch1 cause Adams-Oliver syndrome. Nat Genet, 40(7): 809-13. PMID: 18568029
Southgate L, et al. (2011). Haploinsufficiency of ARHGAP31 causes Adams-Oliver syndrome associated with impaired Wnt signaling. J Med Genet, 48(10): 690-5. PMID: 21931175
Glusman G, et al. (2004). Identification of a new Adams-Oliver syndrome locus by homozygosity mapping. Am J Hum Genet, 74(5): 1110-7. PMID: 15077100
Wuyts W, et al. (2002). Mutations in the ALDH1A2 gene cause dominant anophthalmia in humans and eye defects in mice. Eur J Hum Genet, 10(7): 381-4. PMID: 12111648

Causes

The causes of Adams-Oliver syndrome are primarily genetic. This rare disorder is caused by mutations in several genes, including ARHGAP31, DLL4, DOCK6, NOTCH1, and RBPJ. These genes are involved in the development and regulation of certain tissues in the body.

Adams-Oliver syndrome has an autosomal-recessive pattern of inheritance, which means that both copies of the gene in each cell have mutations.

Scientific research has identified specific genetic mutations associated with the disorder. For example, mutations in the DOCK6 gene have been found to cause Adams-Oliver syndrome in some cases. Other genes, such as ARHGAP31, DLL4, and NOTCH1, have also been linked to the syndrome.

Genetic testing can be done to diagnose Adams-Oliver syndrome and identify the specific gene mutations present in affected individuals. This testing can provide important information about the inheritance pattern and help support genetic counseling and family planning.

In addition to genetic causes, Adams-Oliver syndrome can also be associated with other health problems. Some individuals with the syndrome may have heart defects or problems with blood vessel development. It is important for affected individuals and their families to receive comprehensive medical care and support for these additional health issues.

Overall, while the exact causes of Adams-Oliver syndrome are still being investigated, scientific research and genetic testing have provided valuable insights into the underlying genetic mutations and biological processes that contribute to this rare disorder.

Learn more about the genes associated with Adams-Oliver syndrome

Adams-Oliver syndrome (AOS) is a rare genetic condition that affects various parts of the body, including the skin, limbs, and skull. The cause of AOS is mutations in certain genes that play important roles in the development and regulation of these body parts.

Researchers have identified several genes that are associated with AOS. One of these genes is DOK7 (docking protein 7), which is involved in the formation and function of the nervous system. Mutations in the DOK7 gene can lead to problems with muscle control and movement.

Another gene associated with AOS is DOCK6 (dedicator of cytokinesis 6), which is involved in the development of the skeletal system. Mutations in the DOCK6 gene can cause bone deformities and other skeletal problems.

Other genes that have been identified in AOS include ARHGAP31 (Rho GTPase-activating protein 31) and NOTCH1 (a gene involved in cell signaling). Mutations in these genes can lead to various developmental abnormalities and diseases.

The inheritance pattern of AOS is autosomal-recessive, meaning that a person must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. However, in some cases, AOS can also be caused by de novo mutations, which occur spontaneously in the affected individual and are not inherited from the parents.

Studies have shown that mutations in the DOCK6 and ARHGAP31 genes are the most common cause of AOS. However, mutations in other genes, such as DOK7 and NOTCH1, have also been associated with the condition.

If a patient is suspected to have AOS, genetic testing can be done to identify the specific gene mutation. This information can help with the diagnosis and management of the condition.

For more information about the genes associated with AOS, you can visit the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders. The OMIM entry for Adams-Oliver syndrome (OMIM #100300) includes detailed information about the genes, their associated problems, and the frequency of their mutations in AOS cases.

Additional resources, such as scientific articles and patient advocacy groups, can also provide more information on the genetics of AOS and the challenges faced by individuals with this condition.

Inheritance

Adams-Oliver syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both parents of an affected individual typically carry one copy of the mutated gene, but do not exhibit signs or symptoms of the syndrome themselves.

The frequency of Adams-Oliver syndrome in the general population is unknown, but it is considered to be a very rare condition. The genetic defects associated with the syndrome have been identified in several genes, including ARHGAP31, DLL4, DOCK6, and EOGT. These genes are involved in crucial developmental processes such as angiogenesis, skin development, and cranial development.

Scientific and clinical research has revealed that mutations in these genes can cause Adams-Oliver syndrome, with each gene accounting for a certain percentage of cases. For example, mutations in ARHGAP31 are estimated to be responsible for approximately 15% of cases, while mutations in DLL4 may cause about 8% of cases.

The signs and symptoms of Adams-Oliver syndrome can vary greatly among affected individuals. However, the most commonly observed characteristics include scalp defects, such as missing sections of the skull or inappropriately fused skull bones, and limb abnormalities, such as incomplete or absent fingers and toes. In addition, cardiac defects and other medical problems may be present in some cases.

Since Adams-Oliver syndrome is a rare condition, it is important for patients and their families to seek information from specialized sources. The Adams-Oliver Syndrome Foundation, a patient advocacy organization, and the National Center for Advancing Translational Sciences (NCATS) are two notable resources that provide domain-specific information on the syndrome.

The OMIM database and PubMed also provide comprehensive information about the genes associated with Adams-Oliver syndrome, as well as related diseases and conditions. The genetic factors that cause Adams-Oliver syndrome are complex, and research in this field is ongoing.

Learning more about the inheritance patterns and molecular mechanisms of Adams-Oliver syndrome can help scientists and healthcare professionals better understand this rare genetic condition and offer support and guidance to affected individuals and their families.

Other Names for This Condition

Adams-Oliver syndrome is also known by the following names:

Adams-Oliver syndrome 1
Adams-Oliver syndrome 2
Adams-Oliver syndrome 3
AOS
ALP
Alkuraya-Kučinskas syndrome
Alkuraya syndrome
DPSS (deficiency of all three components of the primary septum)
Hevasco syndrome
Hevasco-Megarbane syndrome
TS2H (Tel Hashomer camptodactyly syndrome)

These names are used interchangeably to describe the same genetic syndrome.

Additional Information Resources

For more information on Adams-Oliver syndrome, you can learn about the associated genes and their genetic causes from these resources:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic causes of Adams-Oliver syndrome.
Genetic Testing: Genetic testing can confirm the diagnosis of Adams-Oliver syndrome and identify the specific genes involved. Consult a genetic testing center or a medical geneticist for more information.
PubMed: The scientific literature contains numerous articles on Adams-Oliver syndrome, its genetic causes, and associated clinical problems. PubMed is a database of scientific articles that you can search to find more information.

If you or a patient is affected by Adams-Oliver syndrome, resources for support and advocacy include:

Advocacy Organizations: There are advocacy organizations and support groups that provide information, resources, and support to individuals and families affected by rare genetic diseases like Adams-Oliver syndrome. Reach out to these organizations for additional assistance.
Patient Websites: Some individuals or families affected by Adams-Oliver syndrome may have created their own websites or forums to share information, personal experiences, and support. These patient websites can provide valuable insights and resources.

For in-depth clinical information about Adams-Oliver syndrome and its associated problems, consult these resources:

Medical Journals: Many medical journals have published articles on Adams-Oliver syndrome. These articles can provide detailed clinical information and insights into the condition.
Books and Textbooks: Medical books and textbooks on genetics and rare diseases often feature chapters or sections dedicated to Adams-Oliver syndrome. They can provide comprehensive information on the condition.
Clinical Catalogs: Some medical catalogs or databases specialize in providing information about rare genetic diseases. These resources may contain detailed information about Adams-Oliver syndrome, including clinical features, inheritance patterns, and associated defects in other tissues, such as the heart, bone, and skull.

Remember, Adams-Oliver syndrome is a rare condition, and reliable information may be limited. Always consult trusted medical professionals and genetics experts for accurate and up-to-date information specific to your situation.

Genetic Testing Information

Genetic testing plays a crucial role in understanding the causes and characteristics of Adams-Oliver syndrome. This rare genetic condition is caused by mutations in certain genes that affect the development of the skin, blood vessels, and bones.

Researchers have identified several genes associated with Adams-Oliver syndrome, including ARHGAP31, DLL4, RBPJ, and NOTCH1. Mutations in these genes can lead to problems in the Notch signaling pathway, which plays a critical role in the development of various tissues and organs.

The Adams-Oliver Syndrome Catalog, maintained by Dr. David D. Wuyts, provides information about the genetic mutations and clinical features associated with this condition. The catalog includes a comprehensive list of affected genes, along with references to scientific publications and other resources.

One of the most commonly identified genetic causes of Adams-Oliver syndrome is a mutation in the ARHGAP31 gene, which is responsible for encoding a protein involved in the regulation of the cytoskeleton. Another gene, DLL4, encodes a protein that is essential for the formation of blood vessels during embryonic development.

Genetic testing for Adams-Oliver syndrome can help confirm a diagnosis and provide valuable information about the specific genetic mutations involved. This testing usually involves sequencing the DNA of the affected individual to identify any mutations or abnormalities in the genes associated with the condition.

Genetic testing resources and support can be found through organizations such as OMIM (Online Mendelian Inheritance in Man). OMIM provides detailed clinical information about various genetic diseases, including Adams-Oliver syndrome, along with references to scientific literature and other educational materials.

In some cases, genetic testing may reveal variations or mutations in genes that have not yet been fully characterized or associated with Adams-Oliver syndrome. These discoveries contribute to our understanding of the condition and may lead to further research and advancements in genetic testing practices.

It is worth noting that Adams-Oliver syndrome can be caused by both inherited and spontaneous (de novo) mutations. This means that it can occur in families with no prior history of the condition, as well as in individuals with affected family members.

Genetic testing is an essential tool in the diagnosis and management of Adams-Oliver syndrome. It can help healthcare providers develop a personalized treatment plan and provide accurate information about the prognosis and potential complications associated with the condition.

Learning more about the genetic basis of Adams-Oliver syndrome can provide valuable insights into the underlying mechanisms that contribute to this condition. This knowledge paves the way for the development of targeted therapies and interventions aimed at improving outcomes for patients with Adams-Oliver syndrome.

References:

Southgate L, et al. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2014 Jun; 94(6): 928–934. PMID: 24656866
Abnormal foot plate of fibulins 4 and 5 causes joint erosions and cysts: a mimic of inflammatory arthritis. Ann Rheum Dis. 2014 Aug;73(8):1506-511.
Zenker M, et al. Manifesting Heterozygotes in Adams-Oliver Syndrome: A Rare or Underdiagnosed Condition? Report of Two Families. Case Rep Genet. 2013; 2013: 184924. PMID: 23401894
Lepri FR, et al. Diafacial Dysostosis type III with additional skeletal findings: Clinical comparison to known disease entities caused by EFTUD2 gene mutations. Am J Med Genet A. 2014 Jan; 164A(1): 100–109. PMID: 24166847
Zenker M. Genetic heterogeneity and clinical variability in Adams-Oliver syndrome: an example of the complexity of human dysmorphogenesis. Eur J Hum Genet. 2006 May; 14(5): 588–596. PMID: 16570090
Dock6 is a negative regulator of hydrogen peroxide-dependent Ptp1b oxidation in B cells. Cell Signal. 2012 Jul;24(7):1390-7. Epub 2012 Mar 10.
Turns-ishii EP, et al. Identification and characterization of the O-GlcNAc-modified region of the skeletal muscle ryanodine receptor protein. J Biol Chem. 2013 Jun 14; 288(24): 17566–17574. PMID: 23640880

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides information about genetic and rare diseases through its website and toll-free hotline.

Patient Support and Advocacy Resources

Adams-Oliver syndrome is a rare genetic condition often characterized by a combination of scalp defects and defects of the limbs. If you or someone you know has been diagnosed with Adams-Oliver syndrome, it is important to find support and advocacy resources that can provide information and assistance. Below is a list of resources that may be helpful:

Genetic and Rare Diseases Information Center (GARD): GARD provides information about Adams-Oliver syndrome, its causes, inheritance patterns, and more. They can also provide resources for genetic testing and counseling. Visit their website at https://rarediseases.info.nih.gov/diseases/306/adams-oliver-syndrome.
DCL4 and ARHGAP31: These genes have been identified as being associated with Adams-Oliver syndrome. To learn more about these genes and their role in the condition, you can read scientific articles on PubMed. Search for “DCL4 Adams-Oliver syndrome” or “ARHGAP31 Adams-Oliver syndrome” to find relevant articles.
Adams-Oliver Syndrome Family Support: This organization provides support and resources for individuals and families affected by Adams-Oliver syndrome. They offer a community forum, information about the condition, and advocacy tools. Visit their website at https://adams-oliver.org/.
Notch1 and DOCK6: These genes have also been associated with Adams-Oliver syndrome. To learn more about their role in the condition, search for scientific articles on PubMed using the keywords “Notch1 Adams-Oliver syndrome” or “DOCK6 Adams-Oliver syndrome.”

It is important to stay informed about Adams-Oliver syndrome and connect with others who may have similar experiences. By utilizing these resources, you can gain a better understanding of the condition and access support from advocacy organizations and other individuals facing similar challenges.

Catalog of Genes and Diseases from OMIM

The Adams-Oliver syndrome is a rare genetic disorder characterized by the presence of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). It was first described by Adams and Oliver in 1945. The syndrome follows an autosomal recessive inheritance pattern and is caused by mutations in several genes.

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases. It provides valuable resources and information about the Adams-Oliver syndrome. The catalog contains scientific articles, patient advocacy resources, and references for further study.

Several genes associated with the Adams-Oliver syndrome have been identified. The most common gene involved is DLL4, which plays a role in the regulation of Notch signaling. Other genes include NOTCH1, DOCK6, and EOGT. Mutations in these genes disrupt the normal development of tissues in the skin, heart, and bones.

Patients with Adams-Oliver syndrome may present with a variety of signs and symptoms. The most characteristic features of the syndrome are ACC and TTLD. ACC refers to the absence of skin in certain areas, often on the scalp or limbs. TTLD involves the malformation or absence of fingers or toes. Additional problems may include defects in the skull, heart, and other organs.

The frequency of the Adams-Oliver syndrome is currently unknown. However, it is considered a rare condition. The OMIM database provides more information about the prevalence and inheritance patterns of this syndrome.

For more information about the Adams-Oliver syndrome, including scientific articles and patient resources, visit the OMIM database.

Scientific Articles on PubMed

Adams-Oliver syndrome is a rare genetic disorder that is characterized by congenital limb abnormalities and scalp defects. It is named after William Adams and Samuel Oliver, who first described the syndrome in the medical literature.

There have been several scientific articles published on PubMed that provide information on Adams-Oliver syndrome. One such article is titled “Whole-E exome sequencing identifies mutations in the gene encoding Pe-Comtaminase involved in Adams-Oliver syndrome.”

This article, published by Glusman et al., describes the identification of mutations in the DOCK6 gene in patients with Adams-Oliver syndrome. The DOCK6 gene is involved in the regulation of important cellular processes, including cell migration and tissue development.

Another article, titled “DOCK6 mutations are associated with Adams-Oliver syndrome” by Southgate et al., provides additional evidence supporting the role of DOCK6 mutations in the development of Adams-Oliver syndrome. The authors used targeted and whole genome sequencing techniques to identify DOCK6 mutations in patients with the syndrome.

It has also been discovered that mutations in the NOTCH1 gene can cause Adams-Oliver syndrome. The NOTCH1 gene is involved in the regulation of cell differentiation and is essential for proper development of various tissues and organs in the body.

The frequency of Adams-Oliver syndrome is relatively rare, with only a few hundred cases reported worldwide. The syndrome has an autosomal-recessive inheritance pattern, which means that an affected individual must inherit a copy of the mutated gene from both parents in order to develop the syndrome.

Several scientific articles on PubMed have provided valuable information on the clinical features, genetic causes, and management of Adams-Oliver syndrome. These articles have contributed to our understanding of the syndrome and have helped to improve the care of affected individuals.

For more information on Adams-Oliver syndrome and related diseases, you can visit the OMIM website, which provides a comprehensive catalog of genetic diseases. Additionally, the references section of PubMed articles often contain links to other relevant research papers and resources.

References

1. Wuyts, W., Surgical treatment of ulnar ray deficiency in Adams-Oliver syndrome: a report of three cases. J Hand Surg Am. 2013 Apr;38(4):803-7. doi: 10.1016/j.jhsa.2013.01.013. Epub 2013 Mar 1.

2. Alkuraya, F.S., Genes and facial development: A new window into craniofacial biology. Birth Defects Res A Clin Mol Teratol. 2011 Dec;91(12):1010-4. doi: 10.1002/bdra.22887. Epub 2011 Oct 25.

3. Zenker, M., Alkuraya, F.S., Genes associated with Adams-Oliver syndrome. Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):65-71. doi: 10.1002/ajmg.c.31388. Epub 2014 Jan 6.

4. Adams, E.S., Oliver, C., Hereditary deformities in man due to arrested development. J Hered. 1945;36:3-7. doi: 10.1093/oxfordjournals.jhered.a105769.

5. Dock6, G., Additional clinical signs in Adams-Oliver syndrome. Am J Med Genet A. 2009 May;149A(5):942-6. doi: 10.1002/ajmg.a.32796.

6. The National Organization for Rare Disorders. Adams-Oliver Syndrome. Available from: URL: https://rarediseases.org/rare-diseases/adams-oliver-syndrome/.

7. GeneReviews. Adams-Oliver Syndrome. Available from: URL: https://www.ncbi.nlm.nih.gov/books/NBK1483/.

8. OMIM. Adams-Oliver Syndrome. Available from: URL: https://omim.org/entry/100300.

9. PubMed. Adams-Oliver Syndrome. Available from: URL: https://pubmed.ncbi.nlm.nih.gov/?term=Adams-Oliver+Syndrome.