Select a specific condition below to view its details.
- Bloom-torre-mackacek syndrome
The most consistent clinical feature of BSyn, seen throughout all stages of life, is poor growth that affects height, weight and head circumference. This growth deficiency begins before birth, and the affected fetus is typically smaller than normal for gestational age. The average birth weight of affected males is 1760 g (range 900-3189 g) and of affected females, 1754 g (range 700-2892 g). Body proportions are nonetheless normal. The average Read More
- Hay-wells syndrome
Hay-wells syndrome, also termed Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome, is a rare autosomal inherited disorder that occurs due to the changes in the TP63 gene.There is no cure for the syndrome. Certain treatment plans are implemented to manage the symptoms and prevent complications in the affected individuals. It includes,Antibiotics – People with this syndrome will b Read More
- Riley-day syndrome
A hereditary genetic abnormality known as Riley-Day syndrome affects the neurological system of the human body.Dysautonomia, or injury to the autonomic nervous system, results in abnormalities in the autonomic nervous system, which links the brain and spinal cord to the muscles and produces autonomic dysfunction.The body might lose the ability to detect touch, smell, and pain as a result of certain disorde Read More