Craniofacial Syndromes

Craniofacial Syndromes

OVERVIEW

What is a Craniofacial Malformation?

Craniofacial malformations are some of the most common structural birth defects.

CAUSES

What causes craniofacial malformations?

Craniofacial malformations often are the result of genetic disorders and may be associated with developmental and functional abnormalities, such as:

Abnormal brain growth

Hearing loss

Difficulty with breathing, chewing, swallowing, and speech

Sometimes referred to as craniofacial anomalies, craniofacial malformations range from cleft lip and palate to congenital growths and tumors, as well as complex craniofacial dysostosis and encephaloceles, in which the bones in the skull and face fuse abnormally.

Treatment for these complex conditions may involve many specialties, including neurosurgery.

When appropriate, UPMC surgeons may use the Endoscopic Endonasal Approach (EEA) to reach and correct certain craniofacial malformations.

This innovative, minimally invasive technique uses the nose and nasal cavities as natural corridors to access hard-to-reach or previously inoperable areas.

EEA offers the benefits of:

No incisions to heal

No disfigurement

Faster recovery times

DIAGNOSES

Examining your child's skull, brain and facial structure with an MRI or CT scan can help clarify the diagnosis. Babies' heads grow rapidly the first year of life, which is why early infancy is when these conditions are likely to be diagnosed and require treatment.

TREATMENT:

Craniofacial Malformation Treatments

Treatment depends on the type of craniofacial malformation.

Craniofacial surgery corrects congenital defects of the skull or injuries to the bone and neck. These procedures require patients to undergo general anesthesia.

Innovative surgery for craniofacial malformations and anomalies

For certain craniofacial malformations, UPMC surgeons use the Endoscopic Endonasal Approach (EEA).

This innovative surgical approach allows surgeons to access the base of the skull and top of the spine by operating through the nose and sinuses without making incisions to the face or skull.

The benefits of EEA include:

No incisions to heal

No disfigurement to the patient

Shorter recovery time

TYPE OF DOCTOR AND DEPARTMENT:Hair Transplant Surgeon,Craniofacial Surgeon SPECIALIST CAN DIAGNOS THIS DISEASE.

Comments

Charge Syndrome

Overview CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. CHARGE syndrome is correlated with genetic mutation to CHD7 and the prevalence of CHARGE syndrome is 1:10,000-1:15,000 live births. Babies with CHARGE syndrome are often born with life-threatening birth defects. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing two little girls sitting on a carpet, one girl has a trach and is biting her finger.loss, vision loss, and balance problems that delay their development and communication. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations. One of the hidden features of CHARGE syndrome is the ...

HMSN Type I

HMSN Type I Overview Hereditary motor and sensory neuropathy type 1 (HMSN I), also known as Charcot-Marie-Tooth disease type 1 (CMT1), is a group of inherited neurological disorders affecting the peripheral nerves. It is characterized by progressive muscle weakness and wasting, primarily in the feet and legs, as well as sensory loss. HMSN I is the most common form of HMSN and is typically caused by a duplication on chromosome 17p11.2-p12, including the PMP22 gene. Symptoms Numbness and tingling: Often starting in the feet and potentially extending to the hands, these sensations can mimic poor circulation. Reduced ability to feel pain and temperature: This can lead to unnoticed injuries and complications. Motor Symptoms: Muscle weakness and wasting: Primarily affecting the distal muscles (those farthest from the body's core), such as the feet and hands. Foot deformities: High arches (pes cavus) and hammer toes are frequently observed. Gait abnormalit...

Sjogren's syndrome

Sjogren's syndrome Overview Sjogren's (SHOW-grins) syndrome is a disorder of your immune system identified by its two most common symptoms — dry eyes and a dry mouth. The condition often accompanies other immune system disorders, such as rheumatoid arthritis and lupus. In Sjogren's syndrome, the mucous membranes and moisture-secreting glands of your eyes and mouth are usually affected first — resulting in decreased tears and saliva. Although you can develop Sjogren's syndrome at any age, most people are older than 40 at the time of diagnosis. The condition is much more common in women. Treatment focuses on relieving symptoms. Symptoms The two main symptoms of Sjogren's syndrome are: Dry eyes . Your eyes might burn, itch or feel gritty — as if there's sand in them. Dry mouth. Your mouth might feel like it's full of cotton, making it difficult to swallow or speak. Some people with Sjogren's syndrome also have one or more of the following: Joint pain, swel...

Health and Fitness

Search This Blog