Goldenhar syndrome is an unusual hereditary disorder which causes formation of abnormal ears, eyes, the mandible, nose, and lips.This type of disorder is also called as ‘Oculo-Auriculo-Vertebral (OAV) syndrome’ and it causes abnormal formation of 1st and 2ndbranchial archas well.The defects result in difficulties in opening the mouth, leading to other problems related to communication… Continue reading Goldenhar Syndrome
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Proteus Syndrome
What is Proteus Syndrome? It is a disease that results in abnormal growth of the skin, the bones and the head, along with several other accompanying symptoms. Michael Cohen Jr., DMD, PhD., was the first one to identify the condition in 1979. The condition got its name from Hans-Rudolf Wiedemann, a German pediatrician in the… Continue reading Proteus Syndrome
Sticker Syndrome
What is a Stickler Syndrome ? It s a condition that can result in severe problems of the eyes, ears and the joints. The condition is often referred to as hereditary progressive arthro-ophthalmopathy and is generally detected during childhood. Children affected by Stickler syndrome usually elicit unique facial characteristics such as a tiny nose, striking… Continue reading Sticker Syndrome
Klinefelter syndrome
Klinefelter syndrome is a hereditary disorder which occurs when a baby boy is born with an additional copy of the X chromosome. It is amongst the most frequent hereditary diseases affecting men. The disease adversely affects growth of the testicles due to which the size of testicles is smaller than normal. This reduces the production… Continue reading Klinefelter syndrome