FACES syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = FACES syndrome | |||
| synonyms = [[Facial dysmorphism]], [[Anorexia]], [[Cachexia]], [[Eye abnormalities]], [[Short stature]] | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Facial dysmorphism]], [[Anorexia]], [[Cachexia]], [[Eye abnormalities]], [[Short stature]] | |||
| complications = [[Developmental delay]], [[Growth retardation]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Clinical evaluation]], [[Genetic testing]] | |||
| differential = [[Noonan syndrome]], [[Turner syndrome]], [[Williams syndrome]] | |||
| prevention = [[Genetic counseling]] | |||
| treatment = [[Supportive care]], [[Nutritional support]], [[Ophthalmologic evaluation]] | |||
| medication = [[None specific]] | |||
| prognosis = [[Variable]], depends on severity of symptoms | |||
| frequency = [[Rare]] | |||
}} | |||
'''FACES syndrome''' (also known as '''FACES association''') is a rare congenital disorder characterized by a combination of [[craniofacial]], [[cardiac]], and other systemic anomalies. The acronym FACES stands for "Facial features, Anorectal malformations, Cardiac defects, Eye abnormalities, and Skeletal anomalies." | '''FACES syndrome''' (also known as '''FACES association''') is a rare congenital disorder characterized by a combination of [[craniofacial]], [[cardiac]], and other systemic anomalies. The acronym FACES stands for "Facial features, Anorectal malformations, Cardiac defects, Eye abnormalities, and Skeletal anomalies." | ||
== Clinical Features == | == Clinical Features == | ||
Individuals with FACES syndrome may present with a variety of clinical features, which can include: | Individuals with FACES syndrome may present with a variety of clinical features, which can include: | ||
* [[Facial dysmorphism]]: Distinctive facial features such as a broad forehead, hypertelorism (wide-set eyes), and a flat nasal bridge. | * [[Facial dysmorphism]]: Distinctive facial features such as a broad forehead, hypertelorism (wide-set eyes), and a flat nasal bridge. | ||
* [[Anorectal malformations]]: Imperforate anus or other abnormalities of the anorectal region. | * [[Anorectal malformations]]: Imperforate anus or other abnormalities of the anorectal region. | ||
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* [[Eye abnormalities]]: Conditions such as [[strabismus]], [[cataracts]], or [[coloboma]]. | * [[Eye abnormalities]]: Conditions such as [[strabismus]], [[cataracts]], or [[coloboma]]. | ||
* [[Skeletal anomalies]]: Limb abnormalities, vertebral defects, or other skeletal malformations. | * [[Skeletal anomalies]]: Limb abnormalities, vertebral defects, or other skeletal malformations. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of FACES syndrome is primarily clinical, based on the presence of the characteristic features. Genetic testing and imaging studies such as [[echocardiography]] and [[MRI]] may be used to identify specific anomalies and confirm the diagnosis. | The diagnosis of FACES syndrome is primarily clinical, based on the presence of the characteristic features. Genetic testing and imaging studies such as [[echocardiography]] and [[MRI]] may be used to identify specific anomalies and confirm the diagnosis. | ||
== Management == | == Management == | ||
Management of FACES syndrome is multidisciplinary, involving various specialists such as [[pediatricians]], [[cardiologists]], [[ophthalmologists]], and [[orthopedic surgeons]]. Treatment is tailored to the individual patient's needs and may include surgical correction of malformations, medical management of cardiac defects, and supportive therapies for developmental delays. | Management of FACES syndrome is multidisciplinary, involving various specialists such as [[pediatricians]], [[cardiologists]], [[ophthalmologists]], and [[orthopedic surgeons]]. Treatment is tailored to the individual patient's needs and may include surgical correction of malformations, medical management of cardiac defects, and supportive therapies for developmental delays. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with FACES syndrome varies depending on the severity of the anomalies and the presence of associated complications. Early diagnosis and comprehensive management can improve outcomes and quality of life. | The prognosis for individuals with FACES syndrome varies depending on the severity of the anomalies and the presence of associated complications. Early diagnosis and comprehensive management can improve outcomes and quality of life. | ||
== Related Pages == | == Related Pages == | ||
* [[Congenital disorder]] | * [[Congenital disorder]] | ||
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* [[Genetic testing]] | * [[Genetic testing]] | ||
* [[Multidisciplinary approach]] | * [[Multidisciplinary approach]] | ||
<br> | <br> | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
{{Congenital-disorder-stub}} | {{Congenital-disorder-stub}} | ||
Latest revision as of 05:35, 4 April 2025
| FACES syndrome | |
|---|---|
| Synonyms | Facial dysmorphism, Anorexia, Cachexia, Eye abnormalities, Short stature |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Facial dysmorphism, Anorexia, Cachexia, Eye abnormalities, Short stature |
| Complications | Developmental delay, Growth retardation |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Clinical evaluation, Genetic testing |
| Differential diagnosis | Noonan syndrome, Turner syndrome, Williams syndrome |
| Prevention | Genetic counseling |
| Treatment | Supportive care, Nutritional support, Ophthalmologic evaluation |
| Medication | None specific |
| Prognosis | Variable, depends on severity of symptoms |
| Frequency | Rare |
| Deaths | N/A |
FACES syndrome (also known as FACES association) is a rare congenital disorder characterized by a combination of craniofacial, cardiac, and other systemic anomalies. The acronym FACES stands for "Facial features, Anorectal malformations, Cardiac defects, Eye abnormalities, and Skeletal anomalies."
Clinical Features[edit]
Individuals with FACES syndrome may present with a variety of clinical features, which can include:
- Facial dysmorphism: Distinctive facial features such as a broad forehead, hypertelorism (wide-set eyes), and a flat nasal bridge.
- Anorectal malformations: Imperforate anus or other abnormalities of the anorectal region.
- Cardiac defects: Congenital heart defects such as ventricular septal defect (VSD) or atrial septal defect (ASD).
- Eye abnormalities: Conditions such as strabismus, cataracts, or coloboma.
- Skeletal anomalies: Limb abnormalities, vertebral defects, or other skeletal malformations.
Diagnosis[edit]
The diagnosis of FACES syndrome is primarily clinical, based on the presence of the characteristic features. Genetic testing and imaging studies such as echocardiography and MRI may be used to identify specific anomalies and confirm the diagnosis.
Management[edit]
Management of FACES syndrome is multidisciplinary, involving various specialists such as pediatricians, cardiologists, ophthalmologists, and orthopedic surgeons. Treatment is tailored to the individual patient's needs and may include surgical correction of malformations, medical management of cardiac defects, and supportive therapies for developmental delays.
Prognosis[edit]
The prognosis for individuals with FACES syndrome varies depending on the severity of the anomalies and the presence of associated complications. Early diagnosis and comprehensive management can improve outcomes and quality of life.
Related Pages[edit]
- Congenital disorder
- Craniofacial abnormalities
- Congenital heart defect
- Genetic testing
- Multidisciplinary approach
This congenital disorder related article is a stub. You can help WikiMD by expanding it.
