CAMFAK syndrome: Difference between revisions
From WikiMD's Wellness Encyclopedia
CSV import |
CSV import |
||
| Line 1: | Line 1: | ||
{{SI}} | |||
{{Infobox medical condition | |||
| name = CAMFAK syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|alt=Autosomal recessive inheritance|frameless]] | |||
| caption = CAMFAK syndrome is inherited in an [[autosomal recessive]] manner | |||
| synonyms = [[Cataracts]], [[microcephaly]], [[failure to thrive]], and [[kyphoscoliosis]] | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Cataracts]], [[microcephaly]], [[failure to thrive]], [[kyphoscoliosis]], [[intellectual disability]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Consanguinity]] | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = Other [[congenital disorders]] | |||
| treatment = [[Supportive care]], [[surgery]] for cataracts | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
}} | |||
{{Short description|A rare genetic disorder}} | {{Short description|A rare genetic disorder}} | ||
'''CAMFAK syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[cataracts]], [[microcephaly]], [[failure to thrive]], and [[kyphoscoliosis]]. It is an [[autosomal recessive]] condition, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. | '''CAMFAK syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[cataracts]], [[microcephaly]], [[failure to thrive]], and [[kyphoscoliosis]]. It is an [[autosomal recessive]] condition, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. | ||
== Genetic Basis == | == Genetic Basis == | ||
[[File:Autosomal recessive - en.svg|thumb | [[File:Autosomal recessive - en.svg|left|thumb|Diagram of autosomal recessive inheritance.]] | ||
CAMFAK syndrome is caused by mutations in a specific gene, although the exact gene responsible has not been definitively identified. The inheritance pattern is autosomal recessive, which is depicted in the diagram to the right. In this pattern, both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms of the disorder themselves. | CAMFAK syndrome is caused by mutations in a specific gene, although the exact gene responsible has not been definitively identified. The inheritance pattern is autosomal recessive, which is depicted in the diagram to the right. In this pattern, both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms of the disorder themselves. | ||
== Clinical Features == | == Clinical Features == | ||
The clinical presentation of CAMFAK syndrome includes several key features: | The clinical presentation of CAMFAK syndrome includes several key features: | ||
* '''Cataracts''': Clouding of the lens of the eye, leading to impaired vision. | * '''Cataracts''': Clouding of the lens of the eye, leading to impaired vision. | ||
* '''Microcephaly''': A condition where the head circumference is significantly smaller than average for the person's age and sex. | * '''Microcephaly''': A condition where the head circumference is significantly smaller than average for the person's age and sex. | ||
* '''Failure to thrive''': Poor weight gain and growth in infants and children. | * '''Failure to thrive''': Poor weight gain and growth in infants and children. | ||
* '''Kyphoscoliosis''': A combination of [[kyphosis]] (outward curvature of the spine) and [[scoliosis]] (lateral curvature of the spine). | * '''Kyphoscoliosis''': A combination of [[kyphosis]] (outward curvature of the spine) and [[scoliosis]] (lateral curvature of the spine). | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of CAMFAK syndrome is based on clinical evaluation, family history, and genetic testing. The presence of the characteristic features, along with a pattern of autosomal recessive inheritance, can lead to a suspicion of the syndrome. Genetic testing can confirm the diagnosis by identifying mutations in the gene associated with the disorder. | Diagnosis of CAMFAK syndrome is based on clinical evaluation, family history, and genetic testing. The presence of the characteristic features, along with a pattern of autosomal recessive inheritance, can lead to a suspicion of the syndrome. Genetic testing can confirm the diagnosis by identifying mutations in the gene associated with the disorder. | ||
== Management == | == Management == | ||
There is currently no cure for CAMFAK syndrome, and treatment is primarily supportive and symptomatic. Management may include: | There is currently no cure for CAMFAK syndrome, and treatment is primarily supportive and symptomatic. Management may include: | ||
* Surgical intervention for cataracts to improve vision. | * Surgical intervention for cataracts to improve vision. | ||
* Physical therapy and orthopedic interventions for kyphoscoliosis. | * Physical therapy and orthopedic interventions for kyphoscoliosis. | ||
* Nutritional support and monitoring to address failure to thrive. | * Nutritional support and monitoring to address failure to thrive. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with CAMFAK syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies employed. Early intervention and supportive care can improve quality of life and outcomes for affected individuals. | The prognosis for individuals with CAMFAK syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies employed. Early intervention and supportive care can improve quality of life and outcomes for affected individuals. | ||
== See also == | |||
== | |||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Autosomal recessive disorder]] | * [[Autosomal recessive disorder]] | ||
| Line 36: | Line 43: | ||
* [[Microcephaly]] | * [[Microcephaly]] | ||
* [[Kyphoscoliosis]] | * [[Kyphoscoliosis]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 21:08, 4 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
| CAMFAK syndrome | |
|---|---|
| |
| Synonyms | Cataracts, microcephaly, failure to thrive, and kyphoscoliosis |
| Pronounce | N/A |
| Specialty | Medical genetics |
| Symptoms | Cataracts, microcephaly, failure to thrive, kyphoscoliosis, intellectual disability |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Consanguinity |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Other congenital disorders |
| Prevention | N/A |
| Treatment | Supportive care, surgery for cataracts |
| Medication | N/A |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | N/A |
A rare genetic disorder
CAMFAK syndrome is a rare genetic disorder characterized by a combination of cataracts, microcephaly, failure to thrive, and kyphoscoliosis. It is an autosomal recessive condition, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder.
Genetic Basis[edit]
CAMFAK syndrome is caused by mutations in a specific gene, although the exact gene responsible has not been definitively identified. The inheritance pattern is autosomal recessive, which is depicted in the diagram to the right. In this pattern, both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms of the disorder themselves.
Clinical Features[edit]
The clinical presentation of CAMFAK syndrome includes several key features:
- Cataracts: Clouding of the lens of the eye, leading to impaired vision.
- Microcephaly: A condition where the head circumference is significantly smaller than average for the person's age and sex.
- Failure to thrive: Poor weight gain and growth in infants and children.
- Kyphoscoliosis: A combination of kyphosis (outward curvature of the spine) and scoliosis (lateral curvature of the spine).
Diagnosis[edit]
Diagnosis of CAMFAK syndrome is based on clinical evaluation, family history, and genetic testing. The presence of the characteristic features, along with a pattern of autosomal recessive inheritance, can lead to a suspicion of the syndrome. Genetic testing can confirm the diagnosis by identifying mutations in the gene associated with the disorder.
Management[edit]
There is currently no cure for CAMFAK syndrome, and treatment is primarily supportive and symptomatic. Management may include:
- Surgical intervention for cataracts to improve vision.
- Physical therapy and orthopedic interventions for kyphoscoliosis.
- Nutritional support and monitoring to address failure to thrive.
Prognosis[edit]
The prognosis for individuals with CAMFAK syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies employed. Early intervention and supportive care can improve quality of life and outcomes for affected individuals.
