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Diseases » Congenital deafness » Glossary

Glossary for Congenital deafness

  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Branchio-Oto-Renal Syndrome: Autosomal dominant genetic disorder involving kidneys, ears and neck.
  • Chromosome 19q13.11 Deletion syndrome: A rare genetic syndrome involving features such as poor fetal growth, reduced fetal activity, developmental problems and various other physical symptoms.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Deafness: Inability to hear sounds.
  • Deafness onychodystrophy dominant form: A rare dominantly inherited disorder characterized by deafness from birth, deformed nails and
  • Deafness, vitiligo, achalasia: A rare disorder characterized by deafness, achalasia (difficulty swallowing) and patches of reduced pigmentation in the skin (vitiligo).
  • Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
  • Ear and Hearing conditions: Medical conditions affecting the ears or the hearing systems.
  • Goldenhar Syndrome: A congenital condition which affects the eyes, ears and vertebrae
  • Head Conditions: Conditions that affect the head
  • Hearing impairment: Reduced ability to hear sounds.
  • Mende syndrome: A rare condition characterized by congenital deafness, mutism, partial albinism and a mongoloid face as well as other anomalies.
  • Pendred syndrome: An inherited condition characterized by hearing loss and goiter formation. The enlarged thyroid gland often continuges to function normally.
  • Rubella congenital syndrome: The transplacental infection of a fetus with rubella
  • Speech and communication conditions: Medical conditions affecting speech or the ability to communicate.
  • Stickler Syndrome: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities.
  • Treacher-Collins Syndrome: A rare genetic disorder characterized by malar hypoplasia, down-slanting palpebral fissures, defect of lower eye lid and malformation of external ear.
  • Usher Syndrome: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss.
  • Waardenburg Syndromes: A syndrome which is characterized by displacement of the medial canthi and lacrimal puncta, a broad nasal bridge, iris conditions.
  • Waardenburg syndrome: A rare genetic disorder with a large variation in range and severity of symptoms but generally involves hearing loss, characteristic facial abnormalities and changes in skin, hair and eye pigmentation.
  • Ziprkowski-Adam syndrome: A rare syndrome characterized by deafness from birth and total albinism.


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