Freeman–Sheldon syndrome: Difference between revisions
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[[File:Freeman-Sheldon_syndrome.JPG|Freeman-Sheldon syndrome| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Freeman–Sheldon syndrome | |||
| image = [[File:Freeman-Sheldon_syndrome.JPG|alt=Photo of a person with Freeman-Sheldon syndrome]] | |||
| image_size = 250px | |||
| alt = Photo of a person with Freeman-Sheldon syndrome | |||
| caption = A person with Freeman-Sheldon syndrome | |||
| synonyms = Whistling face syndrome, cranio-carpo-tarsal dystrophy | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Microstomia]], [[camptodactyly]], [[scoliosis]], [[clubfoot]] | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Clinical diagnosis]], [[genetic testing]] | |||
| differential = [[Arthrogryposis]], [[Moebius syndrome]] | |||
| prevention = | |||
| treatment = [[Physical therapy]], [[surgical intervention]] | |||
| medication = | |||
| prognosis = Variable | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Freeman–Sheldon syndrome''' (FSS), also known as '''whistling face syndrome''', is a rare congenital disorder characterized by multiple physical abnormalities. It is named after the American pediatrician [[Ernest Arthur Freeman]] and the British orthopedic surgeon [[Joseph Harold Sheldon]], who first described the syndrome in 1938. | |||
== Clinical Features == | == Clinical Features == | ||
Individuals with Freeman–Sheldon syndrome typically present with distinctive facial features, including a small mouth (microstomia), pursed lips, deep-set eyes, and a prominent forehead. These facial characteristics often give the appearance of a "whistling face." Other common features include: | Individuals with Freeman–Sheldon syndrome typically present with distinctive facial features, including a small mouth (microstomia), pursed lips, deep-set eyes, and a prominent forehead. These facial characteristics often give the appearance of a "whistling face." Other common features include: | ||
* [[Micrognathia]] (small jaw) | * [[Micrognathia]] (small jaw) | ||
* [[Strabismus]] (crossed eyes) | * [[Strabismus]] (crossed eyes) | ||
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* [[Clubfoot]] (talipes equinovarus) | * [[Clubfoot]] (talipes equinovarus) | ||
* Joint contractures | * Joint contractures | ||
== Genetics == | == Genetics == | ||
Freeman–Sheldon syndrome is usually inherited in an [[autosomal dominant]] manner, although cases of [[autosomal recessive]] inheritance have also been reported. The condition is associated with mutations in the [[MYH3]] gene, which encodes a protein involved in muscle contraction. | Freeman–Sheldon syndrome is usually inherited in an [[autosomal dominant]] manner, although cases of [[autosomal recessive]] inheritance have also been reported. The condition is associated with mutations in the [[MYH3]] gene, which encodes a protein involved in muscle contraction. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Freeman–Sheldon syndrome is primarily based on clinical evaluation and the presence of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the MYH3 gene. | Diagnosis of Freeman–Sheldon syndrome is primarily based on clinical evaluation and the presence of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the MYH3 gene. | ||
== Management == | == Management == | ||
There is no cure for Freeman–Sheldon syndrome, and treatment is focused on managing symptoms and improving quality of life. This may include: | There is no cure for Freeman–Sheldon syndrome, and treatment is focused on managing symptoms and improving quality of life. This may include: | ||
* [[Physical therapy]] to improve joint mobility | * [[Physical therapy]] to improve joint mobility | ||
* [[Orthopedic surgery]] to correct skeletal abnormalities | * [[Orthopedic surgery]] to correct skeletal abnormalities | ||
* [[Speech therapy]] to address speech difficulties | * [[Speech therapy]] to address speech difficulties | ||
* [[Ophthalmologic]] care for eye abnormalities | * [[Ophthalmologic]] care for eye abnormalities | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Freeman–Sheldon syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate medical care and supportive therapies, many individuals can lead relatively normal lives. | The prognosis for individuals with Freeman–Sheldon syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate medical care and supportive therapies, many individuals can lead relatively normal lives. | ||
== See also == | |||
== | |||
* [[Congenital disorder]] | * [[Congenital disorder]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
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* [[Physical therapy]] | * [[Physical therapy]] | ||
* [[Speech therapy]] | * [[Speech therapy]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{Commons category|Freeman–Sheldon syndrome}} | {{Commons category|Freeman–Sheldon syndrome}} | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Orthopedic diseases]] | [[Category:Orthopedic diseases]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 18:42, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Freeman–Sheldon syndrome | |
|---|---|
| |
| Synonyms | Whistling face syndrome, cranio-carpo-tarsal dystrophy |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Microstomia, camptodactyly, scoliosis, clubfoot |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | Arthrogryposis, Moebius syndrome |
| Prevention | |
| Treatment | Physical therapy, surgical intervention |
| Medication | |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | |
Freeman–Sheldon syndrome (FSS), also known as whistling face syndrome, is a rare congenital disorder characterized by multiple physical abnormalities. It is named after the American pediatrician Ernest Arthur Freeman and the British orthopedic surgeon Joseph Harold Sheldon, who first described the syndrome in 1938.
Clinical Features[edit]
Individuals with Freeman–Sheldon syndrome typically present with distinctive facial features, including a small mouth (microstomia), pursed lips, deep-set eyes, and a prominent forehead. These facial characteristics often give the appearance of a "whistling face." Other common features include:
- Micrognathia (small jaw)
- Strabismus (crossed eyes)
- Scoliosis (curvature of the spine)
- Camptodactyly (permanently bent fingers)
- Clubfoot (talipes equinovarus)
- Joint contractures
Genetics[edit]
Freeman–Sheldon syndrome is usually inherited in an autosomal dominant manner, although cases of autosomal recessive inheritance have also been reported. The condition is associated with mutations in the MYH3 gene, which encodes a protein involved in muscle contraction.
Diagnosis[edit]
Diagnosis of Freeman–Sheldon syndrome is primarily based on clinical evaluation and the presence of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the MYH3 gene.
Management[edit]
There is no cure for Freeman–Sheldon syndrome, and treatment is focused on managing symptoms and improving quality of life. This may include:
- Physical therapy to improve joint mobility
- Orthopedic surgery to correct skeletal abnormalities
- Speech therapy to address speech difficulties
- Ophthalmologic care for eye abnormalities
Prognosis[edit]
The prognosis for individuals with Freeman–Sheldon syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate medical care and supportive therapies, many individuals can lead relatively normal lives.
See also[edit]
References[edit]
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External Links[edit]
