Rare Pulmonology 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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.
orphanet

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.

Clinical description
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).

Etiology
The etiology of Fountain syndrome has not been elucidated.

Genetic counseling
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
Brachydactyly
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
Intellectual disability
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
EEG abnormality
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
Ptosis
Drooping upper eyelid
0000508
Scoliosis
0002650
Seizure
0001250
Short distal phalanx of finger
Short outermost finger bone
0009882
Short stature
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
Autosomal recessive inheritance
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.