Lethal congenital contracture syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Lethal congenital contracture syndrome | |||
| image = [[File:Autorecessive.svg|alt=Autosomal recessive inheritance pattern]] | |||
| caption = Autosomal recessive inheritance pattern | |||
| synonyms = LCCS | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Fetal akinesia]], [[arthrogryposis]], [[pulmonary hypoplasia]] | |||
| onset = Prenatal | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[ultrasound]] | |||
| differential = [[Arthrogryposis multiplex congenita]], [[Fetal akinesia deformation sequence]] | |||
| treatment = Supportive care | |||
| prognosis = Poor | |||
| frequency = Rare | |||
}} | |||
'''Lethal Congenital Contracture Syndrome''' (LCCS) is a rare [[genetic disorder]] characterized by multiple joint contractures at birth, leading to severe disability or death. The syndrome is part of a larger group of disorders known as [[arthrogryposis]]. | '''Lethal Congenital Contracture Syndrome''' (LCCS) is a rare [[genetic disorder]] characterized by multiple joint contractures at birth, leading to severe disability or death. The syndrome is part of a larger group of disorders known as [[arthrogryposis]]. | ||
==Etiology== | ==Etiology== | ||
LCCS is caused by mutations in the [[GLE1]] gene. This gene provides instructions for making a protein that is involved in the processing of [[RNA]], a molecule that plays a key role in protein production. Mutations in the GLE1 gene disrupt the normal function of cells, leading to the characteristic features of LCCS. | LCCS is caused by mutations in the [[GLE1]] gene. This gene provides instructions for making a protein that is involved in the processing of [[RNA]], a molecule that plays a key role in protein production. Mutations in the GLE1 gene disrupt the normal function of cells, leading to the characteristic features of LCCS. | ||
==Clinical Features== | ==Clinical Features== | ||
Individuals with LCCS are born with multiple joint contractures, which limit movement and can result in a fixed position of the affected joints. Other features of the syndrome can include [[micrognathia]] (a small jaw), [[lung hypoplasia]] (underdeveloped lungs), and [[intrauterine growth restriction]]. | Individuals with LCCS are born with multiple joint contractures, which limit movement and can result in a fixed position of the affected joints. Other features of the syndrome can include [[micrognathia]] (a small jaw), [[lung hypoplasia]] (underdeveloped lungs), and [[intrauterine growth restriction]]. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of LCCS is based on clinical features and confirmed by [[genetic testing]]. Prenatal diagnosis is possible if there is a known mutation in the family. | Diagnosis of LCCS is based on clinical features and confirmed by [[genetic testing]]. Prenatal diagnosis is possible if there is a known mutation in the family. | ||
==Treatment== | ==Treatment== | ||
There is currently no cure for LCCS. Treatment is supportive and focuses on managing the symptoms. This can include [[physical therapy]] to improve joint mobility and [[respiratory therapy]] for lung problems. | There is currently no cure for LCCS. Treatment is supportive and focuses on managing the symptoms. This can include [[physical therapy]] to improve joint mobility and [[respiratory therapy]] for lung problems. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with LCCS is poor. Most affected individuals die in infancy due to respiratory failure. However, with appropriate supportive care, some individuals with LCCS can survive into adulthood. | The prognosis for individuals with LCCS is poor. Most affected individuals die in infancy due to respiratory failure. However, with appropriate supportive care, some individuals with LCCS can survive into adulthood. | ||
==See Also== | ==See Also== | ||
* [[Arthrogryposis]] | * [[Arthrogryposis]] | ||
| Line 27: | Line 34: | ||
* [[Physical therapy]] | * [[Physical therapy]] | ||
* [[Respiratory therapy]] | * [[Respiratory therapy]] | ||
{{stub}} | {{stub}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
| Line 34: | Line 40: | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Neuromuscular disorders]] | [[Category:Neuromuscular disorders]] | ||
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| Lethal congenital contracture syndrome | |
|---|---|
| |
| Synonyms | LCCS |
| Pronounce | N/A |
| Specialty | Medical genetics |
| Symptoms | Fetal akinesia, arthrogryposis, pulmonary hypoplasia |
| Complications | N/A |
| Onset | Prenatal |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, ultrasound |
| Differential diagnosis | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence |
| Prevention | N/A |
| Treatment | Supportive care |
| Medication | N/A |
| Prognosis | Poor |
| Frequency | Rare |
| Deaths | N/A |
Lethal Congenital Contracture Syndrome (LCCS) is a rare genetic disorder characterized by multiple joint contractures at birth, leading to severe disability or death. The syndrome is part of a larger group of disorders known as arthrogryposis.
Etiology[edit]
LCCS is caused by mutations in the GLE1 gene. This gene provides instructions for making a protein that is involved in the processing of RNA, a molecule that plays a key role in protein production. Mutations in the GLE1 gene disrupt the normal function of cells, leading to the characteristic features of LCCS.
Clinical Features[edit]
Individuals with LCCS are born with multiple joint contractures, which limit movement and can result in a fixed position of the affected joints. Other features of the syndrome can include micrognathia (a small jaw), lung hypoplasia (underdeveloped lungs), and intrauterine growth restriction.
Diagnosis[edit]
Diagnosis of LCCS is based on clinical features and confirmed by genetic testing. Prenatal diagnosis is possible if there is a known mutation in the family.
Treatment[edit]
There is currently no cure for LCCS. Treatment is supportive and focuses on managing the symptoms. This can include physical therapy to improve joint mobility and respiratory therapy for lung problems.
Prognosis[edit]
The prognosis for individuals with LCCS is poor. Most affected individuals die in infancy due to respiratory failure. However, with appropriate supportive care, some individuals with LCCS can survive into adulthood.
