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Disease Profile

Patterson-Stevenson-Fontaine syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Split-foot deformity with ectrodactyly and mandibulofacial dysostosis; Patterson Stevenson Fontaine syndrome

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Patterson-Stevenson-Fontaine syndrome is a very rare syndrome characterized by abnormal development of the bones and tissues of the face (mandibulofacial dysostosis) and limb abnormalities. Physical features of this condition may include a recessed jaw (retrognathism), cleft palate, and anomalies of the external ears. Limb abnormalities may include the absence of toes, clefts in the feet, and fusion of toes together (syndactyly). These limb abnormalities together are known as split-foot deformity or ectrodactyly.[1][2]

Patterson-Stevenson-Fontaine syndrome is inherited in an autosomal dominant manner. Diagnosis of the condition may be based on seeing symptoms in an individual that are consistent with the syndrome. Treatment is focused on improving the symptoms of each person.[3]

Symptoms

The symptoms of Patterson-Stevenson-Fontaine syndrome are present from birth. These symptoms include characteristic facial features and a split-foot deformity. The characteristic facial features are known as mandibulofacial dysostosis and may include a recessed jaw (retrognathism), cleft palate, and changes in the features of the external ears. In some cases, people with this syndrome have been known to have some hearing loss. A split-foot deformity (ectrodactyly) may include absence of the toes, clefts in the feet, and fusion of toes together (syndactyly).[1][2] 

Some people with Patterson-Stevenson-Fontaine syndrome may have all of these features, while others may only have features affecting the face or feet.[1]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the ear
0000598
Autosomal dominant inheritance
0000006
Cleft palate
Cleft roof of mouth
0000175
Malar flattening
Zygomatic flattening
0000272
Mandibulofacial dysostosis
0005321
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Split foot
Lobster-claw foot deformity
Split-foot

[ more ]

0001839
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand

[ more ]

0001171
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770

Cause

Scientists don’t yet understand the complete picture of what causes Patterson-Stevenson-Fontaine syndrome. It is possible that a specific genetic change (mutation) that causes Patterson-Stevenson-Fontaine syndrome, but that gene has not yet been identified. Because the symptoms of the syndrome are present from birth, it is likely that the syndrome is caused by a mutation in a gene that controls the development of the face and feet.[3]

Diagnosis

A diagnosis of Patterson-Stevenson-Fontaine syndrome is typically made based on a person having symptoms consistent with the syndrome.[3] It may be possible to make a diagnosis of the syndrome before a child is born (prenatally) based on ultrasound. However, the syndrome is so rare that it would likely not be identified unless it was suspected based on family history.

Treatment

Treatment of Patterson-Stevenson-Fontaine syndrome focuses on the specific symptoms present in each person. Surgeries may be available to treat some of the features of the syndrome, such as cleft palate or syndactyly. However, surgery is not available for all features of the syndrome. For people who have hearing losshearing aids may be available.[3]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

    • RareConnect is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for limb differences.

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • The Children’s Hospital Boston has a information page on congenital limb defects. Click on the link above to view this information page.
      • More information on limb abnormalities can be found at the following link from MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Patterson-Stevenson-Fontaine syndrome. Click on the link to view a sample search on this topic.

          References

          1. Split-Foot Deformity With Mandibulofacial Dysostosis. Online Mendelian Inheritance in Man (OMIM). June 2, 1997; https://www.omim.org/entry/183700.
          2. Patterson-Stevenson-Fontaine syndrome. Orphanet. October, 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439.
          3. Wilkie AOM and Goodacre TEE. Patterson-Stevenson-Fontaine syndrome: 30-year follow-up and clinical details of a further affected case. American Journal of Medical Genetics. April 14, 1997; 69(4):433-434. https://www.ncbi.nlm.nih.gov/pubmed/9098499.
          4. Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, and Caltabiano M. Acrofacial Dysostoses: Review and Report of a Previously Undescribed Condition: The Autosomal or X-linked Dominant Catania Form of Acrofacial Dysostosis. American Journal of Medical Genetics. 1993; 47:660-678. https://www.ncbi.nlm.nih.gov/pubmed/8266994.

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