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Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.
- Overview
- Symptoms
- Causes
- Risk Factors
- Complications
- Prevention
Noonan syndrome is a genetic condition that stops typical development in various parts of the body. It can affect a person in several ways, including unusual facial features, short height, heart problems and other physical problems. It also can cause a child to develop more slowly than usual, for example, in walking, talking or learning new things....
Symptoms of Noonan syndrome vary greatly and range from mild to severe. These symptoms may be related to the specific gene containing the change.
A change in one or more genes can cause Noonan syndrome. Changes in these genes produce proteins that are always active. Because these genes play a role in how tissues form in the body, this constant activation of proteins disrupts the typical process of cell growth and division. The gene changes that cause Noonan syndrome can be: 1. Inherited.Chil...
A parent with Noonan syndrome has a 50% chance of passing the changed gene to a child. The child who inherits the irregular gene may or may not have more symptoms than the parent who is affected.
Complications from Noonan syndrome can arise that may need attention, including: 1. Developmental delays.Children with Noonan syndrome may be slow to develop compared with other children their age. For example, they may be way behind in learning to speak or walk or in learning things at school. A plan is needed to address the children's development...
If you have a family history of Noonan syndrome, talk to your doctor or health care team about the benefits of genetic counseling before you have children. Genetic testing can detect Noonan syndrome. If Noonan syndrome is detected early, it's possible that proper and ongoing care may lessen complications such as heart disease.
What is Treacher Collins syndrome? Treacher-Collins syndrome is a genetic birth defect characterized by a range of distinctive craniofacial anomalies that can affect the eyes, ears, cheeks, palate, and jaw. A distinctive facial appearance is characteristic of Treacher-Collins syndrome.
- Yes, you really can cry tears of blood. But it isn’t so much a disease as a symptom. Causes include: Blood vessels that don’t grow the right way. Tumors.
- Your pupil is a round hole that gets bigger as light fades and smaller as light brightens. It’s rare, but some people have more than one working pupil in a single eye.
- Your irises are the colored part of each eye. Sometimes they’re a different color from one another. Or one iris might contain different colors. If you’re born with it, you probably won’t have other symptoms or need treatment.
- This disease can cause a notch or gap in parts of your eyes. Your doctor will call it a coloboma. When it affects your iris or pupil, your eye might look like a cat’s.
Wiedemann-Steiner syndrome (WSS) includes distinctive facial features, growth delay, and intellectual disability. Signs and symptoms vary, but facial features may include thick eyebrows, wide-spaced eyes, and narrow eye openings.
Albinism is usually obvious from a baby's appearance when they're born. Your baby's hair, skin and eyes may be examined to look for signs of missing pigment. As albinism can cause a number of eye problems, your baby may be referred to an eye specialist (ophthalmologist) for tests.
Dec 13, 2023 · Symptoms of albinism involve skin, hair and eye color, as well as vision. The easiest form of albinism to see results in white hair and very light-colored skin compared with siblings or other blood relatives. But skin coloring, also called pigmentation, and hair color can range from white to brown.
