Fountain Syndrome Overview

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Learn About Fountain Syndrome

What is the definition of Fountain Syndrome?
Fountain syndrome is an extremely rare autosomal recessive genetic disorder that affects several areas of the body and is characterized by intellectual disability, deafness, and skeletal abnormalities.
What are the symptoms of Fountain Syndrome?
Symptoms of Fountain syndrome include mild to severe intellectual disability, swelling of the face and lips (edema), skeletal abnormalities, congenital deafness related to a malformation of the cochlea in the inner ear, deaf mutism (inability to speak), abnormal thickening of the skull cap (calvaria), an abnormally large head (macrocephaly), broad, short, stubby hands and feet, an extreme curvature of the spine (hyper- kyphosis), and short stature. Some infants with Fountain syndrome may have generalized seizures.
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What are the current treatments for Fountain Syndrome?
Treatment for Fountain syndrome is individualized based on the specific symptoms and may be multidisciplinary, involving several specialists, and includes supportive care. Some individuals with Fountain syndrome may be treated with spinal surgery, exercise, and physical therapy, along with braces and/or casts, to correct a curvature of the spine. Infants with Fountain syndrome with generalized seizures may be treated with anticonvulsant drugs. Children with Fountain syndrome will usually need special education and services for deafness and mutism.
Who are the top Fountain Syndrome Local Doctors?
Elite in Fountain Syndrome
Dr. Michael P. Whyte
Endocrinology
Elite in Fountain Syndrome
Dr. Michael P. Whyte
Endocrinology
4921 Parkview Pl, Div Im Bone & Mineral, Ste 5c, 
Saint Louis, MO 
314-454-7775
Languages Spoken:
English
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Accepting New Patients

Michael Whyte is an Endocrinologist in Saint Louis, Missouri. Dr. Whyte is rated as an Elite provider by MediFind in the treatment of Fountain Syndrome. His top areas of expertise are Hypophosphatasia (HPP), Juvenile Paget's Disease, Rickets, Hypophosphatemia, and Leg or Foot Amputation. Dr. Whyte is currently accepting new patients.

Experienced in Fountain Syndrome
Dr. Amy L. Calhoun
Medical Genetics | Pediatrics
Experienced in Fountain Syndrome
Dr. Amy L. Calhoun
Medical Genetics | Pediatrics

State University Of Iowa

200 Hawkins Dr, 
Iowa City, IA 
319-356-1616
Languages Spoken:
English, French
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Accepting New Patients

Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider in Iowa City, Iowa. Dr. Calhoun is rated as an Experienced provider by MediFind in the treatment of Fountain Syndrome. Her top areas of expertise are Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, and Costello Syndrome. Dr. Calhoun is currently accepting new patients.

 
 
 
 
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Distinguished in Fountain Syndrome
Frederic E. Acke
Distinguished in Fountain Syndrome
Frederic E. Acke
Head And Neck Surgery, 
Gent, VLG, BE 

Frederic Acke practices in Gent, Belgium. Mr. Acke is rated as a Distinguished expert by MediFind in the treatment of Fountain Syndrome. His top areas of expertise are Stickler Syndrome, Fountain Syndrome, Hearing Loss, and Infant Hearing Loss.

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What are the latest Fountain Syndrome Clinical Trials?
Coordination of Rare Diseases at Sanford
Coordination of Rare Diseases at Sanford
Enrollment Status: Recruiting
Publish Date: May 29, 2025

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...

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Effects of Bisphosphonates on OI-Related Hearing Loss: a Pilot Study
Effects of Bisphosphonates on OI-Related Hearing Loss: a Pilot Study
Who is this study for: Patients with Osteogenesis Imperfecta
Enrollment Status: Recruiting
Publish Date: January 27, 2025
Intervention Type: Drug
Study Drug: Risedronate Oral Tablet
Study Phase: Phase 4

Summary: Osteogenesis Imperfecta-related hearing loss usually occurs in individuals with mild (type I) OI and is much earlier in onset than age-related hearing loss, with the majority of individuals experiencing some minor hearing loss in their 20s. Bisphosphonates have been successfully used to treat otosclerosis, a common cause of hearing loss similar to OI-related hearing loss. As many individuals with ...

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