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How do I know if I have Bardet-Biedl Syndrome?

What signs or symptoms may make you suspect you may have Bardet-Biedl Syndrome. People who have experience in Bardet-Biedl Syndrome offer advice of what things may make you suspicious and which doctor you should go to to receive treatment

Do I have Bardet-Biedl Syndrome?

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of symptoms including obesity, vision problems, kidney abnormalities, extra fingers or toes, intellectual disability, and genital abnormalities. While the severity and specific symptoms can vary among individuals, there are certain signs that may indicate the presence of BBS.



Vision problems: One of the most common features of BBS is retinal dystrophy, which can lead to vision loss or blindness. If you experience difficulty seeing, night blindness, or other visual impairments, it is important to consult with an ophthalmologist for a thorough examination.



Obesity: Many individuals with BBS have a tendency to gain weight, especially during childhood. If you or your child struggle with unexplained or excessive weight gain, it may be worth discussing with a healthcare professional.



Kidney abnormalities: BBS can affect the structure and function of the kidneys, leading to various kidney problems. These may include cystic kidneys, kidney malformations, or impaired kidney function. If you have a history of kidney issues or notice symptoms such as frequent urination, blood in urine, or swelling, it is important to seek medical advice.



Extra fingers or toes: Polydactyly, the presence of extra fingers or toes, is a common physical characteristic of BBS. If you or your child have additional digits, it is recommended to consult with a geneticist or healthcare professional for further evaluation.



Intellectual disability: BBS can be associated with varying degrees of intellectual disability or learning difficulties. If you or your child experience challenges with cognitive abilities, developmental milestones, or academic performance, it is advisable to seek professional assessment.



Genital abnormalities: In some cases, BBS may cause abnormalities in the reproductive organs. These can include undescended testes, hypospadias (abnormal positioning of the urethral opening in males), or polycystic ovaries in females. If you notice any unusual genital features, it is important to consult with a healthcare provider.



If you suspect that you or your child may have Bardet-Biedl Syndrome based on the aforementioned signs, it is crucial to consult with a healthcare professional, such as a geneticist or a specialist familiar with rare genetic disorders. They can conduct a comprehensive evaluation, which may involve genetic testing, physical examinations, and medical history assessment, to provide an accurate diagnosis.


Diseasemaps
2 answers
If you were born with extra fingers ot toes, have weight issues and start to lose eyesight, it is recommended to go to the doctor and have your DNA sequenced.

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Hi my name is Ryan, im 14 years old and have BBS1.  My main struggles are my weight and my vision, i also have been diagnosed with Autism and MR.  I got my genetic diagnoisis of BBS about 2 years ago.  I have night blindness and have negative 14 i...
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Hello, my name is Bea. Maried with my great and loving husband, Marco. Together we have  three children. Tamara, Bart and Bas. Bart en Bas are twins. Tamara en Bas have BBS. It was great to see this map with all this people with BBS! I could show Ta...

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