SCARF syndrome: Difference between revisions
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[[File:X-linked_recessive. | {{SI}} | ||
{{Infobox medical condition | |||
| name = SCARF syndrome | |||
| image = [[File:X-linked_recessive.svg|200px]] | |||
| caption = X-linked recessive inheritance | |||
| synonyms = Skeletal abnormalities, Congenital heart defects, Autosomal Recessive inheritance, Retardation of growth and development, and Facial abnormalities | |||
| field = [[Medical genetics]] | |||
| symptoms = Skeletal abnormalities, congenital heart defects, growth retardation, developmental delay, facial dysmorphism | |||
| complications = [[Heart failure]], [[developmental delay]] | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Noonan syndrome]], [[Turner syndrome]], [[Williams syndrome]] | |||
| treatment = [[Supportive care]], [[surgery]] for heart defects | |||
| prognosis = Variable, depends on severity of symptoms | |||
| frequency = Rare | |||
}} | |||
'''SCARF syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[skeletal abnormalities]], [[craniofacial anomalies]], and [[cutaneous syndactyly]]. The acronym SCARF stands for Skeletal abnormalities, Cutis laxa, Aplasia cutis congenita, [[Retardation]] of growth and development, and Facial abnormalities. | |||
== Clinical Features == | == Clinical Features == | ||
Individuals with SCARF syndrome typically present with a variety of clinical features, which may include: | Individuals with SCARF syndrome typically present with a variety of clinical features, which may include: | ||
* [[Skeletal abnormalities]]: These can include [[short stature]], [[scoliosis]], and other bone malformations. | * [[Skeletal abnormalities]]: These can include [[short stature]], [[scoliosis]], and other bone malformations. | ||
* [[Cutis laxa]]: A condition where the skin is loose, wrinkled, and lacks elasticity. | * [[Cutis laxa]]: A condition where the skin is loose, wrinkled, and lacks elasticity. | ||
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* [[Retardation]] of growth and development: This can manifest as delayed physical and cognitive development. | * [[Retardation]] of growth and development: This can manifest as delayed physical and cognitive development. | ||
* [[Facial abnormalities]]: These may include [[micrognathia]] (small jaw), [[cleft palate]], and other craniofacial dysmorphisms. | * [[Facial abnormalities]]: These may include [[micrognathia]] (small jaw), [[cleft palate]], and other craniofacial dysmorphisms. | ||
== Genetics == | == Genetics == | ||
SCARF syndrome is believed to be inherited in an [[autosomal recessive]] manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in SCARF syndrome have not yet been identified. | SCARF syndrome is believed to be inherited in an [[autosomal recessive]] manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in SCARF syndrome have not yet been identified. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of SCARF syndrome is primarily clinical, based on the presence of the characteristic features. Genetic testing may be used to support the diagnosis and to differentiate it from other similar syndromes. | The diagnosis of SCARF syndrome is primarily clinical, based on the presence of the characteristic features. Genetic testing may be used to support the diagnosis and to differentiate it from other similar syndromes. | ||
== Management == | == Management == | ||
There is no cure for SCARF syndrome, and treatment is primarily supportive and symptomatic. Management may involve a multidisciplinary team, including: | There is no cure for SCARF syndrome, and treatment is primarily supportive and symptomatic. Management may involve a multidisciplinary team, including: | ||
* [[Orthopedic surgery]] for skeletal abnormalities | * [[Orthopedic surgery]] for skeletal abnormalities | ||
* [[Dermatology|Dermatological]] care for cutis laxa and aplasia cutis congenita | * [[Dermatology|Dermatological]] care for cutis laxa and aplasia cutis congenita | ||
* [[Pediatric]] and [[developmental medicine]] for growth and developmental delays | * [[Pediatric]] and [[developmental medicine]] for growth and developmental delays | ||
* [[Plastic surgery]] for facial abnormalities | * [[Plastic surgery]] for facial abnormalities | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with SCARF syndrome varies depending on the severity of the symptoms and the presence of any associated complications. Early intervention and supportive care can improve the quality of life for affected individuals. | The prognosis for individuals with SCARF syndrome varies depending on the severity of the symptoms and the presence of any associated complications. Early intervention and supportive care can improve the quality of life for affected individuals. | ||
== See Also == | == See Also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
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* [[Craniofacial abnormalities]] | * [[Craniofacial abnormalities]] | ||
* [[Skeletal dysplasia]] | * [[Skeletal dysplasia]] | ||
== See also == | |||
== | |||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Cutis laxa]] | * [[Cutis laxa]] | ||
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* [[Craniofacial abnormalities]] | * [[Craniofacial abnormalities]] | ||
* [[Skeletal dysplasia]] | * [[Skeletal dysplasia]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 18:09, 8 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
| SCARF syndrome | |
|---|---|
| |
| Synonyms | Skeletal abnormalities, Congenital heart defects, Autosomal Recessive inheritance, Retardation of growth and development, and Facial abnormalities |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Skeletal abnormalities, congenital heart defects, growth retardation, developmental delay, facial dysmorphism |
| Complications | Heart failure, developmental delay |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Noonan syndrome, Turner syndrome, Williams syndrome |
| Prevention | N/A |
| Treatment | Supportive care, surgery for heart defects |
| Medication | N/A |
| Prognosis | Variable, depends on severity of symptoms |
| Frequency | Rare |
| Deaths | N/A |
SCARF syndrome is a rare genetic disorder characterized by a combination of skeletal abnormalities, craniofacial anomalies, and cutaneous syndactyly. The acronym SCARF stands for Skeletal abnormalities, Cutis laxa, Aplasia cutis congenita, Retardation of growth and development, and Facial abnormalities.
Clinical Features[edit]
Individuals with SCARF syndrome typically present with a variety of clinical features, which may include:
- Skeletal abnormalities: These can include short stature, scoliosis, and other bone malformations.
- Cutis laxa: A condition where the skin is loose, wrinkled, and lacks elasticity.
- Aplasia cutis congenita: A condition characterized by the absence of skin at birth, usually on the scalp.
- Retardation of growth and development: This can manifest as delayed physical and cognitive development.
- Facial abnormalities: These may include micrognathia (small jaw), cleft palate, and other craniofacial dysmorphisms.
Genetics[edit]
SCARF syndrome is believed to be inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in SCARF syndrome have not yet been identified.
Diagnosis[edit]
The diagnosis of SCARF syndrome is primarily clinical, based on the presence of the characteristic features. Genetic testing may be used to support the diagnosis and to differentiate it from other similar syndromes.
Management[edit]
There is no cure for SCARF syndrome, and treatment is primarily supportive and symptomatic. Management may involve a multidisciplinary team, including:
- Orthopedic surgery for skeletal abnormalities
- Dermatological care for cutis laxa and aplasia cutis congenita
- Pediatric and developmental medicine for growth and developmental delays
- Plastic surgery for facial abnormalities
Prognosis[edit]
The prognosis for individuals with SCARF syndrome varies depending on the severity of the symptoms and the presence of any associated complications. Early intervention and supportive care can improve the quality of life for affected individuals.
See Also[edit]
See also[edit]
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