Ear, Nose, and Throat Diseases
Can repeated ear infections be a sign of a genetic disease? Can an odor in a person's sweat be caused by a genetic disease? And at some point in most of our lives we have experienced a nosebleed and thought nothing of it, but could this be due to a rare genetic disease? The answer to all these questions are yes.
Inherited genetic defects play an important role in babies born with hearing loss and contribute to ~60% of deafness in infants. Low platelets can signal easy bruising and bleeding and be an early warning sign of one of the most common lysosomal storage disease- Gaucher disease.
- BO syndrome. - See Branchiootic syndrome
- 22q11.2 deletion syndrome
- Alstrom syndrome
- Arts syndrome
- Bifid nose
- BOR syndrome - See Branchiootorenal syndrome
- BOS - See Branchiootic syndrome
- branchiootic dysplasia - See Branchiootic syndrome
- Branchiootic syndrome
- Branchiootorenal syndrome
- CHARGE syndrome
- Cleft nose - See Bifid nose
- Cornelia de Lange syndrome
- dilantin embryopathy - See Fetal hydantoin syndrome
- Duchenne and becker muscular dystrophy
- fetal dilantin syndrome - See Fetal hydantoin syndrome
- Fetal hydantoin syndrome
- Fragile X syndrome
- Fragile x tremor/ataxia syndrome
- hydantoin embryopathy - See Fetal hydantoin syndrome
- Kabuki syndrome
- Leopard syndrome 1
- Meckel syndrome
- Neurofibromatosis, type II
- Norrie disease
- Pendred syndrome
- phenytoin embryopathy - See Fetal hydantoin syndrome
- Roberts syndrome
- Smith-Lemli-Opitz syndrome
- Smith-magenis syndrome
- Stickler syndrome, type i, nonsyndromic ocular
- Treacher-collins syndrome
