Patterson-Stevenson-Fontaine syndrome

What causes Patterson-Stevenson-Fontaine syndrome?

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.

Last updated on 05-01-20

How is Patterson-Stevenson-Fontaine syndrome diagnosed?

A diagnosis of Patterson-Stevenson-Fontaine syndrome is typically made based on a person having symptoms consistent with the syndrome. 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.

Last updated on 05-01-20

How is Patterson-Stevenson-Fontaine syndrome inherited?

Patterson-Stevenson-Fontaine syndrome is inherited in an autosomal dominant manner. 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. 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. 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.

Last updated on 05-01-20

If my brother has Patterson-Stevenson-Fontaine syndrome, what is the chance that I could have an affected child?

The unavailability of genetic testing and the reduced penetrance reported in this condition make assessing risks to family members difficult.

The risk to family members (including future children) likely depends on several factors, and because there is currently not a genetic test for the condition, finding answers to important questions may be hard.

Your risk to have the disease-causing mutation yourself may depend on the genetic status of your parents. If one of your parents is affected or has the mutation, your risk to have inherited that mutation is 50% (1 in 2). If you did inherit the mutation, each of your children then has a 50% risk to inherit the mutation. If you didn't inherit the mutation, it is no longer present and cannot be passed to your children.

If neither of your parents has the mutation and your brother is affected due to having a new ( de novo) mutation, it is likely that your risk to have the disease-causing mutation is very low.

In addition to evaluating overall growth and development, prenatal ultrasound exams can be used to evaluate the fetal face and limbs. A detailed ultrasound may be able to detect or rule out the presence of features of this condition.

We strongly encourage you to meet with a prenatal genetic counselor or other genetics professional to discuss your family history and obtain more detailed information. We also recommend that you discuss your concerns and options for ultrasound screening with your prenatal care provider.

Last updated on 05-01-20

What is the long-term outlook for people affected by Patterson-Stevenson- Fontaine syndrome?

The long-term outlook for people affected by Patterson-Stevenson-Fontaine syndrome is not well understood because the syndrome is so rare. People with this syndrome have been known to have children, and the syndrome is not known to affect life expectancy.

It is unclear whether or not intellectual disability is associated with Patterson-Stevenson-Fontaine syndrome. In one family, individuals with the syndrome had intellectual disability, but this may not have been caused by having the syndrome. In other families, intellect among people with this syndrome has been normal.

Because people with this syndrome have facial differences, it may be important to join support groups or meet people who have similar facial differences. Information about finding support groups or other affected people is listed below.

Last updated on 05-01-20

How might Patterson-Stevenson-Fontaine syndrome be treated?

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.

Last updated on 05-01-20

Name: Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane, Suite 104
Orlando, FL, 32814, United States
Phone: +1-407-895-0802 Email: Url:
Name: About Face International 51 Wolseley Street Toronto, ON M5T 1A4
Phone: +1-416-597-2229 Toll Free: 1-800-665-3223 Fax : +1-416-597-8494 Email: Url:
Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States
Phone: 423-266-1632 Toll Free: 800-332-2373 Email: Url:
Name: ACPA Family Services 1504 East Franklin Street, Suite 102
Chapel Hill, NC, 27514-2820, United States
Phone: +1-919-933-9044 Fax : +1-919-933-9604 Email: Url:
Split-Foot Deformity With Mandibulofacial Dysostosis Online Mendelian Inheritance in Man (OMIM). June 2, 1997; Reference Link 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. Reference Link 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. Reference Link

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