Thoracic dysplasia-hydrocephalus syndrome
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
NIH genetic and rare disease info[edit source]
Thoracic dysplasia-hydrocephalus syndrome is a rare disease.
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