About Dysostosis, Stanescu type

What is Dysostosis, Stanescu type?

Dysostosis, Stanescu type is a rare genetic disorder characterized by skeletal malformations, including short stature, scoliosis, and abnormalities of the hands and feet. It is caused by a mutation in the gene encoding the protein filamin B. Symptoms may also include intellectual disability, hearing loss, and vision problems.

What are the symptoms of Dysostosis, Stanescu type?

The symptoms of Dysostosis, Stanescu type include:

-Craniofacial abnormalities, such as a prominent forehead, a flat midface, a small lower jaw, and a wide nasal bridge

-Short stature
-Delayed development
-Hearing loss
-Abnormalities of the hands and feet, such as short fingers and toes, and webbing of the fingers and toes
-Abnormalities of the spine, such as Scoliosis and kyphosis
-Abnormalities of the heart, such as aortic stenosis and atrial septal defect
-Abnormalities of the kidneys, such as cysts and polycystic kidney disease
-Abnormalities of the eyes, such as strabismus and cataracts
-Abnormalities of the gastrointestinal tract

What are the causes of Dysostosis, Stanescu type?

Dysostosis, Stanescu type is a rare genetic disorder caused by a mutation in the SLC35A2 gene. This gene is responsible for the production of a protein called UDP-N-acetylglucosamine-1-phosphate transferase, which is involved in the transport of sugar molecules across cell membranes. Mutations in this gene can lead to a variety of symptoms, including skeletal abnormalities, facial dysmorphism, and intellectual disability.

What are the treatments for Dysostosis, Stanescu type?

The treatments for Dysostosis, Stanescu type vary depending on the severity of the condition and the individual's symptoms. Treatment may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and/or medications to help manage pain and other symptoms. In some cases, genetic counseling may be recommended.

What are the risk factors for Dysostosis, Stanescu type?

1. Genetic mutation in the SLC35A2 gene
2. Family history of Dysostosis, Stanescu type
3. Being of Eastern European descent
4. Being a male
5. Having a weakened immune system

Is there a cure/medications for Dysostosis, Stanescu type?

At this time, there is no known cure for Dysostosis, Stanescu type. However, there are medications that can help manage the symptoms associated with the condition. These medications may include pain relievers, muscle relaxants, and anti-inflammatory drugs. Additionally, physical therapy and occupational therapy may be recommended to help improve mobility and strength.