Thoracic dysplasia-hydrocephalus syndrome

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Thoracic dysplasia-hydrocephalus syndrome
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Synonyms
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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

• Jeune syndrome
• Hydrocephalus
• Thoracic dysplasia
• IFT172 gene

NIH genetic and rare disease info

• NIH info on Thoracic dysplasia-hydrocephalus syndrome

Thoracic dysplasia-hydrocephalus syndrome is a rare disease.

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