What is MRKA?

General Discussion. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder that affects women. It is characterized by the failure of the uterus and the vagina to develop properly in women who have normal ovarian function and normal external genitalia.

What is Bardet-Biedl syndrome?

Summary. Bardet-Biedl syndrome (BBS) is a genetic condition that impacts multiple body systems. It is classically defined by six features. Patients with BBS can experience problems with obesity, specifically with fat deposition along the abdomen. They often also suffer from intellectual impairments.

How common is Bardet-Biedl syndrome?

In most of North America and Europe, Bardet-Biedl syndrome has a prevalence of 1 in 140,000 to 1 in 160,000 newborns. The condition is more common on the island of Newfoundland (off the east coast of Canada), where it affects an estimated 1 in 17,000 newborns.

Do girls with MRKH get discharge?

The recovery involves 4-6 weeks of healing from major surgery, and dilators will need to be worn afterwards. Young women who have this procedure usually experience chronic vaginal discharge requiring the need to wear a pad all the time.

How do you treat MRKH?

MRKH syndrome can be treated either surgically or non-surgically. Non-surgical treatment uses dilators to slowly create a neo-vagina. Basically, the woman uses a rounded silicone rod to put pressure against the vaginal dimple. Over time, this causes the vagina to deepen and expand.

How do you treat BBS?

There is currently no cure for BBS, but that does not mean that there is nothing that can be done to help people with BBS. Children with BBS benefit greatly from therapies like physical therapy, occupational therapy, speech therapy and vision services.

What is the life expectancy for BBS?

On life-table analysis, 25% of BBS patients had died by 44 years, whereas at that age 98% of unaffected siblings were still alive (P < 0.0001). Bardet-Biedl syndrome has an adverse prognosis, with early onset of blindness, obesity, hypertension, and diabetes mellitus.

Do people with MRKH have a clitoris?

Girls with MRKH have normal ovaries but an underdeveloped vagina and uterus, which may also be very small or even completely absent. MRKH does not affect the development of external female parts, meaning girls with MRKH have normal pubic hair, labia, clitoris and lower vagina.

How do MRKH pee?

Generally, women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome pee the same way that other women without the disorder do because the opening through which the urine is voided (urethral opening) is typically not affected.

What is McIndoe procedure?

The Abbè-McIndoe procedure is one of the most frequent surgical procedures used. The original Abbè-McIndoe procedure consisted of the surgical creation of a vagina in between the bladder and the rectum and the successive lining with a dermal graft.

Is Joubert syndrome life threatening?

Some children have mild effects, with only minor symptoms and almost normal development. Others experience significant problems with development, severe impairment in function and organ involvement. Joubert syndrome can be fatal in childhood. Researchers are still studying life expectancy with this rare condition.

Can Joubert syndrome be cured?

There is no cure for Joubert syndrome, so treatment focuses on the symptoms. 6 Infants with abnormal breathing may have a breathing (apnea) monitor for use at home, especially at night. Physical, occupational, and speech therapy may be helpful for some individuals.

What is the life expectancy of someone with Bardet-Biedl syndrome?

What is Prader Willi?

Prader-Willi (PRAH-dur VIL-e) syndrome is a rare genetic disorder that results in a number of physical, mental and behavioral problems. A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins at about 2 years of age.

Can MRKH have orgasm?

YES. Most sexual pleasure and orgasm come from stimulation to the clitoris and intercourse or vaginal penetration can enhance that sensation.

What is polydactyly and how is it treated?

Polydactyly can be seen by ultrasound during pregnancy and by eye at birth. Once your child is born, x-rays will help their doctor see the underlying structure of your baby’s fingers and determine a course of treatment. How is polydactyly treated? The most common treatment for polydactyly is removing the extra finger.

How is polydactyly surgery in the foot performed?

Most cases of polydactyly surgery in the foot are performed as outpatient surgery- this allows patients to go home the same day. Again, extensive procedures may require a hospital stay. Depending on the extent of the reconstruction, it can be performed under a local, regional, spinal or general anesthetic.

What is an extra toe (polydactyly)?

What Is An Extra Toe (Polydactyly)? An extra toe (or digit) is medically known as polydactly or a supernumerary toe. It is a genetic condition resulting where the digit is duplicated, and can be fully functional or just fleshy.

How painful is polydactyly surgery in children?

Usually children with simple polydactyly have minimal pain. If they have mild pain they may take Tylenol or Motrin. The incision can get wet the next day. Your child should avoid soaking it under water and swimming for 2 weeks after surgery.