Fountain syndrome

Title

Other Names:

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 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.

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.

Last updated: 1/1/2014

Symptoms 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.

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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 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 foot	Abnormal feet morphology Abnormality of the feet Foot deformities Foot deformity [ more ]	0001760
Abnormality of the metacarpal bones	Abnormality of the long bone of hand	0001163
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
Rough bone trabeculation		0100670
Scoliosis	Abnormal curving of the spine	0002650
Seizures	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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2020

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Learn More 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.

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