Patterson-Stevenson-Fontaine syndrome

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Disease Profile

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US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.0

Inheritance

Patterson-Stevenson-Fontaine syndrome is inherited in an autosomal dominant manner.^[1]^[2] This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the syndrome. The exact genetic cause of Patterson-Stevenson-Fontaine syndrome has not yet been identified, but that gene may be responsible for the correct development of the face and feet.

When a person with Patterson-Stevenson-Fontaine syndrome has children, each child has a 50% (1 in 2) chance to inherit the same gene change that causes the syndrome. However, Patterson-Stevenson-Fontaine syndrome reportedly shows reduced penetrance.^[1]^[2] This means that not every person with a disease-causing mutation will have features of the syndrome. Therefore, it is possible for this condition to appear to “skip” generations. If a person with the syndrome has a child with the gene change but no features of the syndrome, when this person goes on to have children, he or she may have features of the syndrome.

Patterson-Stevenson-Fontaine syndrome also shows variable expressivity.^[2] This means that not all affected people will have the same signs and symptoms, and some people may be more severely affected than others.

In some cases, a mutation that causes an autosomal dominant syndrome is inherited from a parent with the mutation. In other cases, autosomal dominant syndromes are due to new mutations that occur for the first time (de novo) in an affected person.

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

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.

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.

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

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.

Not applicable

Other names (AKA)

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

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

Do you have updated information on this disease? We want to hear from you.

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 loss, hearing 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

About Face International
51 Wolseley Street
Toronto, ON M5T 1A4
Canada
Toll-free: 1-800-665-3223
Telephone: +1-416-597-2229
Fax: +1-416-597-8494
E-mail: [email protected]
Website: https://www.aboutface.ca/
ACPA Family Services
1504 East Franklin Street, Suite 102
Chapel Hill, NC 27514-2820
Telephone: +1-919-933-9044
Fax: +1-919-933-9604
E-mail: [email protected]
Website: https://cleftline.org/
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: +1-407-895-0802
E-mail: [email protected]
Website: https://www.birthdefects.org/
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: [email protected]
Website: https://www.faces-cranio.org/

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

Split-Foot Deformity With Mandibulofacial Dysostosis. Online Mendelian Inheritance in Man (OMIM). June 2, 1997; https://www.omim.org/entry/183700.
Patterson-Stevenson-Fontaine syndrome. Orphanet. October, 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439.
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.
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.

Rare Immunology News

Rare Immunology News

Rare Immunology News

Neonatal

Q87.0

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

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.

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.

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

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Cause

Diagnosis

Treatment

Organizations

Organizations Supporting this Disease

Social Networking Websites

Learn more

Where to Start

In-Depth Information

References

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.

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