About Parietal foramina with clavicular hypoplasia

What is Parietal foramina with clavicular hypoplasia?

Parietal foramina with clavicular hypoplasia is a rare congenital disorder characterized by the presence of one or more holes in the skull (parietal foramina) and underdevelopment of the collarbone (clavicular hypoplasia). It is a genetic disorder caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). Symptoms may include seizures, intellectual disability, and facial abnormalities. Treatment is symptomatic and may include physical therapy, medications, and surgery.

What are the symptoms of Parietal foramina with clavicular hypoplasia?

The symptoms of Parietal foramina with clavicular hypoplasia can vary depending on the severity of the condition. Common symptoms include:

-Delayed growth and development
-Abnormal skull shape
-Underdeveloped or absent collarbone
-Widely spaced eyes
-Widely spaced nipples
-Low-set ears
-Widely spaced teeth
-Widely spaced fingers and toes
-Abnormal facial features
-Intellectual disability
-Seizures
-Hearing loss
-Vision problems
-Feeding difficulties
-Delayed motor skills

What are the causes of Parietal foramina with clavicular hypoplasia?

Parietal foramina with clavicular hypoplasia is a rare congenital disorder that is caused by a genetic mutation. The exact cause of the mutation is unknown, but it is believed to be caused by a combination of environmental and genetic factors. Possible causes include exposure to certain toxins, radiation, or certain medications during pregnancy.

What are the treatments for Parietal foramina with clavicular hypoplasia?

Treatment for parietal foramina with clavicular hypoplasia depends on the severity of the condition. In mild cases, no treatment may be necessary. In more severe cases, surgery may be recommended to correct the deformity. Surgery may involve reshaping the bones of the shoulder and chest, or using bone grafts to fill in the gaps. Physical therapy may also be recommended to help improve range of motion and strength in the affected area.

What are the risk factors for Parietal foramina with clavicular hypoplasia?

1. Genetic mutations
2. Chromosomal abnormalities
3. Maternal exposure to certain medications or toxins
4. Maternal alcohol or drug use
5. Maternal smoking
6. Maternal diabetes
7. Maternal obesity
8. Maternal age
9. Family history of the condition

Is there a cure/medications for Parietal foramina with clavicular hypoplasia?

Unfortunately, there is no known cure or medications for parietal foramina with clavicular hypoplasia. Treatment is usually focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, and speech therapy to help with any developmental delays. Surgery may also be recommended to correct any skeletal deformities.