Patterson-Stevenson-Fontaine syndrome

Alternate names

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

Definition

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.

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.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

• 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.

Onset

The symptoms of Patterson-Stevenson-Fontaine syndrome are present from birth.

Signs and symptoms

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

Diagnosis

• 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.

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.

Prognosis

• 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.

NIH genetic and rare disease info

• NIH info on Patterson-Stevenson-Fontaine syndrome

Patterson-Stevenson-Fontaine syndrome is a rare disease.

Patterson-Stevenson-Fontaine syndrome Resources
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