Rare Pediatrics News
Disease Profile
Fountain syndrome
Prevalence
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.
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.
<1 / 1 000 000
Age of onset
Infancy
ICD-10
Q87.8
Inheritance
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.
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.
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)
Intellectual disability, deafness, skeletal abnormalities, coarse face with full lips; Deafness, skeletal dysplasia, lip granuloma
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Nervous System Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 3219
Definition
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability , deafness, skeletal abnormalities and coarse facial features.
Epidemiology
The syndrome is exceedingly rare and has been reported in only a few patients to date. Male and female patients have been described.
The main clinical features of Fountain syndrome include moderate to severe intellectual deficit, congenital sensorineural hearing impairment, and broad, stubby hands and feet. A coarse face with full lips and cheeks is also found. These signs are reported to become more prominent with age. Additional reported signs are early-onset, generalized seizures , short stature , large head circumference, and remarkable behavior (friendly demeanor).
The etiology of Fountain syndrome has not been elucidated.
The pattern of inheritance appears to be autosomal recessive .
Visit the Orphanet disease page for more resources.
Symptoms
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
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
|
Short fingers or toes
|
0001156 | |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
| Facial edema |
Facial puffiness
Facial swelling
[ more ] |
0000282 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
| Sensorineural hearing impairment | 0000407 | |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 |
| 30%-79% of people have these symptoms | ||
| 0002353 | ||
| Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
| Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
| Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] |
0000974 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
| Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 |
| Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
| 5%-29% of people have these symptoms | ||
| Abnormal foot morphology |
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity
[ more ] |
0001760 |
| Abnormal form of the vertebral bodies | 0003312 | |
| Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 |
| Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
| Coarse metaphyseal trabecularization | 0100670 | |
| Cutis marmorata | 0000965 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
| Erythema | 0010783 | |
| Gingival overgrowth |
Gum enlargement
|
0000212 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
| Large hands |
large hand
|
0001176 |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
| Metaphyseal dysplasia | 0100255 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
| Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
| Papule | 0200034 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
|
Drooping upper eyelid
|
0000508 | |
| 0002650 | ||
| 0001250 | ||
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Spina bifida occulta | 0003298 | |
| Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Broad palm |
Broad hand
Broad hands
Wide palm
[ more ] |
0001169 |
| Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ] |
0002684 |
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.
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 Fountain syndrome. Click on the link to view a sample search on this topic.