Other RASopathy syndromes

Stock photo of two vials with orange caps filled with a sparkling DNA helix

Hereditary Gingival Fibromatosis

Hereditary Gingival Fibromatosis (HGF) is not as well known, and is thus not well described. HGF is believed to be caused by variants in the SOS1 gene.

What are some of the features and symptoms of Hereditary Gingival Fibromatosis?

Overgrowth of the gums
Abnormal shaped and movement of teeth
Swelling and bleeding of the gums
Speech disorders

Other (syndromic) Hereditary Gingival Fibromatosis findings:

Cognitive disability
Seizures
Spleen problems
Visual and hearing problems

What is the age at diagnosis of Hereditary Gingival Fibromatosis?

Any time when clinical features appear, and testing is done to confirm the diagnosis.

How is Hereditary Gingival Fibromatosis treated?

Treatment is focused on the specific symptoms and may involve a team of doctors with different specialties.

What types of cancer are individuals with Hereditary Gingival Fibromatosis at higher risk of developing?

More research is needed to learn about cancers in patients with HGF.

SYNGAP1 Syndrome

SYNGAP1 syndrome is not as well known, and is thus not well defined in the literature. SYNGAP1 is caused by variants in the SYNGAP1 gene.

What are some of the symptoms and features of SYNGAP1 Syndrome?

Developmental delay
Reduced muscle strength
Seizures
Sunken chest wall
Abnormal curving of the spine
Crossed eyes

What is the age at diagnosis of SYNGAP1 Syndrome?

Any time when clinical features appear, and testing is done to confirm the diagnosis.

How is SYNGAP1 syndrome treated?

Treatment is focused on the specific symptoms and often includes a team of doctors with different specialties.

What types of cancer are individuals with SYNGAP1 syndrome at higher risk of developing?

More research is needed to learn about cancers in patients with SYNGAP1 syndrome.

Other types of RASopathy syndromes:

If interested, please visit the RASopathies Study enrollment website.