ENT
Genetically Related Disorders in the Field of Head, Nose, and Ears with Increased Risk of Diseases.
Approximately 60-80% of cases of congenital hearing loss in children can be attributed to genetic causes. In most cases, these are non-syndromic forms, meaning that the hearing loss occurs in isolation and is not associated with other symptoms or syndromes. There are many different genes associated with hearing impairments. Even in cases of hearing loss occurring in later childhood or early to mid-adulthood, genetic diagnostics are advisable.
Research has shown that head and neck tumors have a complex genetic basis. In addition to known risk factors such as smoking and alcohol consumption, HPV infections also play an important role in the development of these tumors. The variant in the tumor suppressor gene TP53, commonly found in head and neck tumors due to smoking, affects the immune system and contributes to tumor progression.
However, there are also other genes involved in the onset and development of thesediseases. We are happy to support you with genetic diagnostics and advise on suitable therapy approaches.
ENT (Panel Investigations)
CLEFT LIP AND PALATE
- Non-syndromic Cleft Lip and Palate
- Van der Woude Syndrome
- DiGeorge Syndrome
- Stickler Syndrome
- Gordon Syndrome
- Pierre Robin Sequence
HEARING IMPAIRMENT
- Waardenburg Syndrome
- Monosomy 1p36
- Pendred Syndrome
- Treacher Collins Syndrome
- Smith-Magenis Syndrome
- Mucopolysaccharidosis
- Alpha-Mannosidosis
- Non-syndromic Hearing Disorders
other notable Conditions
- Trisomy 21
- Peutz-Jeghers Syndrome
- Beckwith-Wiedemann Syndrome