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.

References[edit | edit source]

NIH genetic and rare disease info[edit source]

NIH info on Thoracic dysplasia-hydrocephalus syndrome

Thoracic dysplasia-hydrocephalus syndrome is a rare disease.

Thoracic dysplasia-hydrocephalus syndrome Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.

Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD

WikiMD is not a substitute for professional medical advice. See full disclaimer.

Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.

v t e Genetic disorders
General Concepts	Genetics Mutation Chromosome Genetic variation Heritability
Types and Disorders	Autosomal dominant Huntington's disease Marfan syndrome Autosomal recessive Cystic fibrosis Sickle cell disease X-linked dominant Rett syndrome X-linked recessive Hemophilia Color blindness Mitochondrial Leber's hereditary optic neuropathy
Diagnosis and Treatment	Genetic testing Gene therapy Personalized medicine Prenatal diagnosis
Related Topics	Evolutionary biology Medical genetics Pharmacogenomics Population genetics
This genetic disorder related article is a stub.

v t e Rare and genetic diseases
Rare diseases - Thoracic dysplasia-hydrocephalus syndrome
A-Z list of rare diseases	0-9 \| A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Also see	Comprehensive list of genetic and rare diseases
Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine