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Glossary for Conductive deafness

  • Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
  • Adenoiditis: Infection of the adenoids in the nasal-throat region
  • Arnold Stickler Bourne syndrome: A very rare syndrome characterized by muscle problems in hands, mouth and pharynx, kidney anomalies and corneal crystals.
  • Bixler-Christian-Gorlin syndrome: A very rare syndrome characterized primarily by widely spaced eyes, small ears and a clefts in the lip, palate and nose.
  • Blepharoptosis - aortic anomaly: A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta.
  • Blethen-Wenick-Hawkins syndrome: A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning.
  • Braun-Bayer syndrome: A familial disorder involving deafness, split uvula, short thumbs and toes and kidney problems.
  • CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
  • Cholesteatoma: Uncommon middle ear condition
  • Chromosome 18 deletion syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing.
  • Chromosome 2, monosomy 2p22: A rare chromosomal disorder where deletion of a portion of chromosome 2 causes various abnormalities such as deafness, intestinal problems, mental retardation and speech defects.
  • Conductive hearing loss: Hearing loss due to a defect in the external auditory canal or middle ear.
  • Craniosynostosis exostoses nevus epibulbar dermoid: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
  • Cushing's symphalangism: A rare syndrome characterized by deafness and the fusion of joints in the middle of fingers and toes as well as fusion of hand and foot bones.
  • De Grouchy Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Deafness: Inability to hear sounds.
  • Deafness conductive - ptosis - skeletal anomalies: A very rare syndrome characterized mainly by deafness, droopy eyelids and skeletal abnormalities.
  • Deafness conductive stapedial ear malformation facial palsy: A rare disorder characterized by conductive deafness, malformed external ears and facial paralysis. The deafness is due to an abnormal bone (stapes) in the inner ear which vibrates to transmit sound messages.
  • Deafness symphalangism: A rare genetic disorder characterized by deafness, distinctive facial features and fusion of various bones in the fingers, toes and upper arms. Joint ankylosis starts in early childhood and is progressive.
  • Deafness, Conductive Stapedial, With Ear Malformation and Facial Palsy: A rare syndrome characterized by an ear abnormality (due to a stapedial defect) which causes conductive deafness as well as malformed external ears and facial paralysis. The degree and extent of facial paralysis is variable - can affect only one side of face or may be a weakness rather than a paralysis.
  • Deletion 18q: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Earlobes thickened conductive deafness from incudo: An inherited ear disorder characterized by an inner ear abnormality, impaired hearing and thickened earlobes. The condition is present at birth and is not progressive.
  • Escher-Hirt syndrome: A very rare syndrome characterized by thick earlobes and conductive deafness due to an inner ear structure abnormality. The deafness is non-progressive and occurs at birth.
  • Familial Treacher Collins syndrome: Treacher Collins syndrome is a rare inherited disorder characterized by down-slanting eye slits, malformed external ear, abnormal lower eyelid and underdeveloped cheeks. In the familial form, the condition tends to occur in a number of people within a family. The severity of the condition is variable.
  • Franceschetti-Klein syndrome: A rare genetic disorder characterized by malar hypoplasia, down-slanting eye slits, defect of lower eye lid and malformation of external ear.
  • Glue ear: Fluid accumulation in the middle ear
  • Goldenhar Syndrome: A congenital condition which affects the eyes, ears and vertebrae
  • Gupta-Patton syndrome: A rare congenital disorder characterized by abnormally small ears and deafness.
  • Hereditary hearing disorder: Genetic disorders that affects hearing and is passed from parents to offspring.
  • Kartagener syndrome: A rare genetic disorder characterized by enlarged bronchial tubes, sinusitis and cross-positioning of body organs.
  • Macrocephaly, rhizomelia and conductive hearing loss: A rare syndrome characterized by a large head, short limbs and conductive hearing loss.
  • Melnick-Fraser syndrome: A rare genetic disorder characterized by hearing loss and kidney malformations. Type 1 involves a defect on the EYA1 gene on chromosome 8q13.3.
  • Metaphyseal dysostosis mental retardation conductive deafness: A rare, recessively inherited disorder characterized by mental retardation, deafness and skeletal abnormalities.
  • Microtia, meatal atresia and conductive deafness: A rare disorder characterized by very small right ear and conductive deafness. Muscle paralysis on the right side of the soft palate may also be present.
  • Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
  • Multiple synostoses syndrome 1: A rare genetic disorder characterized by deafness, distinctive facial features and fusion of various bones in the fingers, toes and upper arms.
  • Multiple synostosis syndrome: A rare genetic disorder characterized by multiple bone fusions involving the face, limbs and middle ear.
  • Myhre Syndrome: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
  • Nasopharyngeal carcinoma: A malignant cancer that occurs in the nasopharynx area which is the upper part of the throat. Often there are no symptoms until the cancer has metastasized to other parts of the body such as the neck.
  • Ossicular Malformations, familial: A familial form of conductive deafness caused by an abnormal small bone in the middle ear (ossicle).
  • Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
  • Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
  • Oto-Palato-digital syndrome type 1: A rare genetic disorder characterized by deafness, cleft palate, broad fingers and toes and short nails.
  • Otosclerosis: Genetic ear bone disorder
  • Paget's disease of bone: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile.
  • Polychondritis: A serious, progressive, episodic condition characterized by inflammation and degeneration of cartilage in the body. The duration and severity of the episodes can vary.
  • Say-Carpenter syndrome: A very rare syndrome characterized mainly by wide set eyes, abnormally placed urethral opening in males and abnormal bone development.
  • Schofer beetz bohl syndrome: A rare syndrome characterized mainly by brain calcification, mental retardation, short stature, diabetes insipidus and unusual facial appearance.
  • Schweitzer kemink malcolm syndrome: A rare syndrome characterized by the association of conductive deafness with a small jaw.
  • Soto's Syndrome: A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies.
  • Stickler Syndrome: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities.
  • Stickler Syndrome, type I: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 1 is caused by a genetic defect on chromosome 12q13.11-q13.2
  • Stickler Syndrome, type II: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 2 is caused by a genetic defect on chromosome 1p21
  • Stickler Syndrome, type III: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and ear abnormalities. Type 3 is caused by a genetic defect on chromosome 6q21.3. Type 3 doesn't involve any of the eye problems that occur in type 1 and 2.
  • Thanos-Stewart-Zonana Syndrome: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
  • 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.
  • Zunich neuroectodermal syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.


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