Fibrochondrogenesis: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Fibrochondrogenesis | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Fibrochondrogenesis is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = Fibrochondrogenesis type 1, FBCG1 | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Short stature]], [[dwarfism]], [[skeletal dysplasia]], [[respiratory distress]] | |||
| onset = [[Prenatal]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[prenatal ultrasound]] | |||
| differential = [[Achondrogenesis]], [[hypochondrogenesis]] | |||
| treatment = Supportive care | |||
| prognosis = Poor, often [[lethal]] in infancy | |||
| frequency = Rare | |||
}} | |||
'''Fibrochondrogenesis''' is a rare, lethal, [[congenital]] [[skeletal dysplasia]] characterized by a short trunk and limbs, a narrow chest, and a prominent, rounded abdomen. The condition is caused by mutations in the [[COL11A1]] and [[COL11A2]] genes. | '''Fibrochondrogenesis''' is a rare, lethal, [[congenital]] [[skeletal dysplasia]] characterized by a short trunk and limbs, a narrow chest, and a prominent, rounded abdomen. The condition is caused by mutations in the [[COL11A1]] and [[COL11A2]] genes. | ||
== Signs and Symptoms == | == Signs and Symptoms == | ||
The most common signs and symptoms of fibrochondrogenesis include [[short stature]], [[micrognathia]] (small lower jaw), [[cleft palate]], and [[clubfoot]]. Other features may include [[hypoplastic]] (underdeveloped) lungs, [[omphalocele]] (abdominal wall defect), and [[hydrops fetalis]] (excessive fluid accumulation in the body before birth). | The most common signs and symptoms of fibrochondrogenesis include [[short stature]], [[micrognathia]] (small lower jaw), [[cleft palate]], and [[clubfoot]]. Other features may include [[hypoplastic]] (underdeveloped) lungs, [[omphalocele]] (abdominal wall defect), and [[hydrops fetalis]] (excessive fluid accumulation in the body before birth). | ||
== Causes == | == Causes == | ||
Fibrochondrogenesis is caused by mutations in the [[COL11A1]] and [[COL11A2]] genes. These genes provide instructions for making a protein that is used to form larger molecules called type XI collagen. Collagens are complex molecules that provide structure and strength to connective tissues throughout the body. Mutations in these genes disrupt the assembly of type XI collagen molecules, which affects the development of bones and other connective tissues. | Fibrochondrogenesis is caused by mutations in the [[COL11A1]] and [[COL11A2]] genes. These genes provide instructions for making a protein that is used to form larger molecules called type XI collagen. Collagens are complex molecules that provide structure and strength to connective tissues throughout the body. Mutations in these genes disrupt the assembly of type XI collagen molecules, which affects the development of bones and other connective tissues. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of fibrochondrogenesis is typically made based on the characteristic clinical and radiographic findings. Prenatal diagnosis may be possible through [[ultrasound]] examination. Genetic testing can confirm the diagnosis. | Diagnosis of fibrochondrogenesis is typically made based on the characteristic clinical and radiographic findings. Prenatal diagnosis may be possible through [[ultrasound]] examination. Genetic testing can confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for fibrochondrogenesis. Treatment is supportive and based on the signs and symptoms present in each person. Management may include physical therapy to improve joint mobility and maintain muscle tone. | There is currently no cure for fibrochondrogenesis. Treatment is supportive and based on the signs and symptoms present in each person. Management may include physical therapy to improve joint mobility and maintain muscle tone. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with fibrochondrogenesis is poor. Most affected infants die shortly after birth due to respiratory failure. A small number of affected individuals have lived into childhood. | The prognosis for individuals with fibrochondrogenesis is poor. Most affected infants die shortly after birth due to respiratory failure. A small number of affected individuals have lived into childhood. | ||
== See Also == | == See Also == | ||
* [[Skeletal dysplasia]] | * [[Skeletal dysplasia]] | ||
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[[Category:Genetic disorders with OMIM but no gene]] | [[Category:Genetic disorders with OMIM but no gene]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 16:00, 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
| Fibrochondrogenesis | |
|---|---|
| |
| Synonyms | Fibrochondrogenesis type 1, FBCG1 |
| Pronounce | N/A |
| Specialty | Medical genetics |
| Symptoms | Short stature, dwarfism, skeletal dysplasia, respiratory distress |
| Complications | N/A |
| Onset | Prenatal |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, prenatal ultrasound |
| Differential diagnosis | Achondrogenesis, hypochondrogenesis |
| Prevention | N/A |
| Treatment | Supportive care |
| Medication | N/A |
| Prognosis | Poor, often lethal in infancy |
| Frequency | Rare |
| Deaths | N/A |
Fibrochondrogenesis is a rare, lethal, congenital skeletal dysplasia characterized by a short trunk and limbs, a narrow chest, and a prominent, rounded abdomen. The condition is caused by mutations in the COL11A1 and COL11A2 genes.
Signs and Symptoms[edit]
The most common signs and symptoms of fibrochondrogenesis include short stature, micrognathia (small lower jaw), cleft palate, and clubfoot. Other features may include hypoplastic (underdeveloped) lungs, omphalocele (abdominal wall defect), and hydrops fetalis (excessive fluid accumulation in the body before birth).
Causes[edit]
Fibrochondrogenesis is caused by mutations in the COL11A1 and COL11A2 genes. These genes provide instructions for making a protein that is used to form larger molecules called type XI collagen. Collagens are complex molecules that provide structure and strength to connective tissues throughout the body. Mutations in these genes disrupt the assembly of type XI collagen molecules, which affects the development of bones and other connective tissues.
Diagnosis[edit]
Diagnosis of fibrochondrogenesis is typically made based on the characteristic clinical and radiographic findings. Prenatal diagnosis may be possible through ultrasound examination. Genetic testing can confirm the diagnosis.
Treatment[edit]
There is currently no cure for fibrochondrogenesis. Treatment is supportive and based on the signs and symptoms present in each person. Management may include physical therapy to improve joint mobility and maintain muscle tone.
Prognosis[edit]
The prognosis for individuals with fibrochondrogenesis is poor. Most affected infants die shortly after birth due to respiratory failure. A small number of affected individuals have lived into childhood.
See Also[edit]
| Osteochondrodysplasias | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
