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Disease Profile

Gingival fibromatosis with hypertrichosis

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.


US Estimated

Europe Estimated

Age of onset






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.


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.


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)

Hypertrichosis terminalis, generalized, with gingival hyperplasia; Extreme hirsutism with gingival fibromatosis; Hereditary gingival fibromatosis with hypertrichosis


Congenital and Genetic Diseases; Mouth Diseases; Skin Diseases


Gingival fibromatosis with hypertrichosis is a genetic condition that can cause profound overgrowth of hair and gums, as well as other variable features. Signs and symptoms may be present from birth or begin in later childhood to adolescence. The historical figure, Julia Pastrana and her infant son, likely had this syndrome.[1] The underlying cause of gingival fibromatosis with hypertrichosis is unknown, but speculated to involve a heritable contiguous gene deletion.[2] Gingival fibromatosis with hypertrichosis can be inhertied from an affected parent or occur for the first time in a family due to a new (spontaneous) genetic change in the affected person. An autosomal dominant pattern of inheritance has been demonstrated in individual families.[1] The signs and symptoms of gingival fibromatosis with hypertrichosis overlap with a number of other gum overgrowth syndromes, such as Laband syndrome, juvenile hyaline fibromatosis and Jones syndrome.[3] Improved understanding regarding the cause, will likely aid in distinguishing these syndromes in the future.[3]


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:
80%-99% of people have these symptoms
Generalized hirsutism
Excessive hairiness over body
Gingival fibromatosis
30%-79% of people have these symptoms
Coarse facial features
Coarse facial appearance
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

EEG abnormality
Gingival overgrowth
Gum enlargement
5%-29% of people have these symptoms
Bulbous nose
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
Eye folds
Prominent eye folds

[ more ]


[ more ]

Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows

[ more ]

Thick nasal alae
Wide nasal base
Broad base of nose
Broad nasal base
Increased width of base of nose
Increased width of nasal base
Wide base of nose

[ more ]

Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
Congenital, generalized hypertrichosis
Excessive hairiness

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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.

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 Gingival fibromatosis with hypertrichosis. Click on the link to view a sample search on this topic.


  1. Hypertrichosis terminalis, generalized, with or without gingival hyperplasia. Online Mendelian Inheritance in Man. July 24, 2009; https://omim.org/entry/135400. Accessed 5/16/2013.
  2. Lin Z, Wang T, Sun G, Huang X. Report of a case of Zimmermann-Laband syndrome with new manifestations. Int J Oral Maxillofac Surg. 2010 Sep;39(9):937-41; https://www.ncbi.nlm.nih.gov/pubmed/20457511. Accessed 5/16/2013.
  3. Haytac MC, Ozcelik O, Turkey A. The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103:521–527; https://www.ncbi.nlm.nih.gov/pubmed/17395066. Accessed 5/16/2013.