Thoracic dysplasia-hydrocephalus syndrome
(Redirected from Thoracic dysplasia hydrocephalus syndrome)
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| Thoracic dysplasia-hydrocephalus syndrome | |
|---|---|
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| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Thoracic dysplasia, hydrocephalus |
| Complications | |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | |
| Prevention | |
| Treatment | Supportive care |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
Thoracic dysplasia-hydrocephalus syndrome is a rare genetic disorder characterized by a combination of skeletal abnormalities and neurological complications. The syndrome is also known as Jeune syndrome or asphyxiating thoracic dystrophy.
Symptoms and Signs
The primary symptoms of Thoracic dysplasia-hydrocephalus syndrome include hydrocephalus, a condition where there is an accumulation of cerebrospinal fluid in the brain, and thoracic dysplasia, a condition characterized by abnormal development of the thorax. Other symptoms may include short limbs, narrow chest, and respiratory problems.
Causes
Thoracic dysplasia-hydrocephalus syndrome is caused by mutations in the IFT172 gene. This gene provides instructions for making a protein that is part of a complex involved in the transportation of molecules within cells. Mutations in the IFT172 gene disrupt this transportation process, leading to the symptoms of Thoracic dysplasia-hydrocephalus syndrome.
Diagnosis
Diagnosis of Thoracic dysplasia-hydrocephalus syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the IFT172 gene.
Treatment
Treatment for Thoracic dysplacia-hydrocephalus syndrome is symptomatic and supportive. This may include surgery to manage hydrocephalus, respiratory support for breathing difficulties, and physical therapy to improve mobility.
Prognosis
The prognosis for individuals with Thoracic dysplacia-hydrocephalus syndrome varies. Some individuals may have a normal lifespan with appropriate management of symptoms, while others may have a shortened lifespan due to respiratory complications.
See Also
References
| Genetic disorders | ||||||||
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This genetic disorder related article is a stub.
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NIH genetic and rare disease info
Thoracic dysplasia-hydrocephalus syndrome is a rare disease.
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Rare diseases - Thoracic dysplasia-hydrocephalus syndrome
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Contributors: Prab R. Tumpati, MD
