Hearing Loss - Syndrome and condition list for congenital and progressive hearing loss

Title Description Hearing loss (HL)

A Achondroplasia Dwarfism, skeletal ossification disorder Conductive & Sensorineural HL
Albers-Schonberg Disease of Osteopetrosis Brittle, thickened, chalky bones Conductive & Sensorineural HL
Albinism with blue irides Pigmentation disorder eyes,skin, hair Sensorineural HL
Alport's Syndrome Nephritis and cataracts Progressive Sensorineural HL
Apert Syndrome Craniosynostosis, midface anomalies, middle ear involvement Conductive HL
Aplasias (errors during embroyonic development)
Michel aplasia Complete absence of inner ear & auditory nerve Sensorineural HL
Mondini aplasia Abnormal development of the structure (turns) of the cochlear Sensorineural HL
Scheibe aplasia Abnormal formation of the cochlear membrane Sensorineural HL
Asphyxia at birth / neonatal period Rescusitation required/poor APGARs, seizures, neurological involvement Sensorineural HL, auditory neuropathy
B Bacterial meningitis Auditory involvement, can have sudden permanent H'loss Sensorineural HL, central effects
Bjornstad Syndrome Dry, brittle, flat, twisted hair Sensorineural HL
Branchio-Oto-Renal syndrome (BOR) Renal anomalies, auricular pits, pinnae malformations Conductive, sensorineural & mixed HLs
Carraro Syndrome Absence of the Tibia bone Sensorineural HL
C Camurati-Engelmann Disease Skeletal - enlarged diaphysis of the long bones Conductive & Sensorineural HL
Chemotherapy medications (mother & baby) Cisplatin, Carboplatin - inner ear hair cells affected Sensorineural HL
Cerebral palsy Hypoxic episode during development or birth asphyxia Sensorineural HL
Craniofacial abnormalities
Atresia of the ear canal Atresia, stenosis of the ear channel Conductive, Sensorineural & Mixed HLs
Absence or malformed pinna Atresia, stenosis, malformation of the pinnae Conductive, Sensorineural & Mixed HLs
Cleft palate Malformation of the hard palate (Exclude cleft lip if only feature present) Conductive HL
Conductive, sensorineural & mixed HLs.
CHARGE syndrome Coloboma - eyes, Heart, Atresia of the nares, Genital, Ear - deafness Can have aud neuropathy
Cleidocranial Dysostosis Retarded ossification, narrowed auditory canal Conductive & Sensorineural HL
Cockayne's syndrome Growth failure and neurologic delay, retinal atrophy, Sensorineural Hearing Loss
Cornelia de Lange Syndrome SGA, limb malformations, cardiac defects, cleft palate Conductive, Sensorineural or mixed HLs
Conductive, SN or mixed (Majority are
Crouzon's syndrome Craniosynostosis, midface anomalies, outer & middle ear defects conductive)
D Dwarfism Skeletal anomalies, shortness, short fingers Sensorineural HL
Down syndrome Middle ear anomalies - ossicles, otitis media infections Conductive, Sensorineural or mixed HLs
E Encephalitis Infection, Auditory involvement Sudden permanent Sensorineural HL
Engelmann's Syndrome Bone dysplasia, increased skeletal density affecting auditory function
F Fanconi's anaemia syndrome Impaired renal transport, growth delay Sensorineural HL
Family history of hearing loss Permanent HL evident in early infancy < 6 years (see QH - S&R list) Conductive or sensorineural HL
Fetal Alcohol Syndrome LBW, skeletal anomalies, cleft palate, pinnae anomalies Conductive & Sensorineural HL
Fraser Syndrome Adherent eyelids, external ear malformations, syndactyly Conductive & Sensorineural HL
Friedreich Ataxia Progressive ataxia, cataracts Sensorineural HL
G Goldenhar's syndrome Eye, ear and mouth anomalies Conductive or Sensorineural HL
H Hemifacial microsomia Abnormal development on one side of the face, atresia/ stenosis canal Conductive or Sensorineural HL
Hermann's Syndrome Late onset of disease. Epilepsy, speech, ataxia, renal disease Sensorineural HL
Sensorineural HL, may have aud
Hyperbilirubinemia Dampening of the Auditory nerve function due to excessive bilirubin neuropathy
Severe aphyxia with neurological sequalae, hypotonic limbs, significant Sensorineural HL, may have aud
Hypoxic Ischaemic Encephalopathy HIE morbidity neuropathy

Hydrocephalus IVH Grade 3 & 4, internal cranial anomalies, 8th Cranial Nerve involvement Sensorineural HL
Hunter's and Hurler's Syndrome Progressive manifestation of coarse facial features Mixed HL
I Infections
Cytomegalovirus Herpes virus 5, microcephaly, hepatosplenomegaly, jaundice, IUGR Sensorineural HL
Herpes Congenital neonatal herpes infection HSV-1 & 2 - High mortality Sensorineural HL
Rubella LBW, purpura, jaundice, Organ of Corti degeneration Sensorineural HL
Toxoplasmosis Parasitic infection, chorioretinitis, cerebral calcification, convulsions Sensorineural HL
Syphillis Nasal discharge, rash, anaemia, jaundice, osteochondritis Sensorineural HL
Bleeding within the brain structures causing adverse neurological
Intraventricular haemorrhage IVH complications Sensorineural HL & Central effects
Cardiovascular disorder, fainting, sudden death a feature, auditory
J Jervell and Lange-Nielsen syndrome involvement Sensorineural HL
Keratopachyderma & digital Constrictions
K Nephrosis Pigment disorder, may include renal disease Sensorineural HL
Craniofacial and skeletal disorder, short neck, cleft, poorly developed inner
Klippel-Feil syndrome ear structures Conductive & Sensorineural HL
L Laurence-Moon-Biedl-Bardet Syndromes Retinitis pigmentosa, polydactyly Sensorineural HL
LEOPARD Syndrome (Multiple lentigines
syndrome) Pigment disorder, café au lait spots, cardiac, ocular, genital, growth delay Sensorineural HL
Long QT Syndrome Cardiac condition

Low birth weight <1500 gms Multifactorial predictor for increased perinatal morbidity risks Sensorineural HL & Central effects
M Marshall Syndrome Short stature, skeletal defects, cataracts Sensorineural HL
Meningitis Inner hair cells in cochlear damaged by virus Sensorineural HL
 Hearing Loss - Syndrome and condition list for congenital and progressive hearing loss
Title Description Hearing loss (HL)
Mitochondrial disorders DNA - Maternal inheritance pattern
Connective tissue disorder, facial paralysis Cranial nerves 6 & 7, middle ear
Moeibus(Mobius)Syndrome anomalies Conductive & Sensorineural HL
Muckle-Wells Syndrome Onset in teens, urticaria, renal failure Sensorineural HL
N Neurofibromatosis type II Intracranial tumours, 8th Cranial nerve, acoustic neuroma Sensorineural HL
Noonan's Syndrome See Leopard syndrome, café au lait spots Sensorineural HL
Norries Syndrome Eye disorder, auditory impairment Sensorineural HL
O Oculo-Auriculo-Vertebralia Spectrum (OAV) Facial asymmetry, anomalies of external, middle ear, cranial nerve Sensorineural HL & Central effects
Optic atrophy and polyneuropathy Progressive visual loss, polyneuropathy in childhoods Sensorineural HL (progressive)
Ototoxic Medication - affecting inner ear hair Neomycin, Amikacin, Gentamycin, Kanamycin, Sisomicin, Tobramycin,
cells Dibekacin, Steptomycin Sensorineural HL
Frusemide (loop diuretic used in conjuction with Antibiotics) Quinine -
malarial treatment Sensorineural HL
Osteogenesis imperfecta "brittle bones", stapes malformation Conductive & Sensorineural HL
P Paget's disease Juvenile skeletal disorder, bone pain, swelling Progressive mixed h'loss
Persistent Pulmonary Hypertension of the
Newborn PPHN Ventilation, progressive hypoxia, persistent fetal circulation Sensorineural HL & Central effects

Pierre Robin Syndrome Craniofacial anomaly, micrognathia, glossoptuosis, may have cleft palate Conductive & Sensorineural HL
Periauricular abnormalities Periauricular pits, tags, fistulas, ear canal atresia, facial paralysis Conductive or sensorineural

Periventricular leucomalacia PVL Ischaemic cystic changes in the brain matter predisposing to Cerebral palsy
Piebaldness Lack of pigment in hair, ataxia, blue irides Sensorineural HL
Pendred's Syndrome Thyroid goiter - iodine imbalance in inner hair cells Sensorineural HL
Pyle's Syndrome Enlargement and sclerosis of the facial bones, ribs, clavicles Sensorineural HL
Q
R Refsum's Syndrome Organ of Corti degeneration, inner ear anomalies, eye disorder Progressive Sensorineural HL
Richards-Rundle Syndrome CNS disorder, ataxia muscle wastings Progressive Sensorineural HL
S Stickler syndrome Flattened facial profile, cleft palate, ocular changes Conductive & Sensorineural HL
T Treacher Collins syndrome Head and neck anomalies, atresia of canal, abnormal middle ear Conductive HL
Trisomy 21 (Down syndrome) Recurrent Middle ear infections Conductive & Sensorineural HL
Trisomy 13 -15 & 18 High mortality rate Conductive or Sensorineural HL
Turner's Syndrome Gonadal dysgenesis, webbed neck & digits, micrognathia Conductive & Sensorineural HL
U Usher Syndrome Retinitis pigmentosa, tunnel vision, vertigo organ of Corti degeneration Sensorineural HL
V Ventilation Mechanical ventilation for longer than 5 days - increased neonatal risks Sensorineural HL
Van der Hoeve's syndrome "brittle bone", stapes malformation Conductive & Sensorineural HL
Vohwinkel-Nockemann Syndrome See Keratopachyderma reference above Sensorineural HL (may be progressive)
Von Reckinghausen's Syndrome Hyperkeratosis of palms, soles, knees, elbows, acoustic neuroma, renal Sensorineural HL
W Waardenburg's Syndrome (Type 1&2) White forelock, iris colour different in one eye, prominent mandible, cleft Sensorineural HL
Wildervanck's Syndrome Dysmorphic facial features, atresia of ear canals, eyeball retraction, Sensorineural HL or mixed
Winter Syndrome Renal anomalies, genital malformation, malformed ear and canals Conductive HL
XYZ
John Muir Medical Centre USA - Hearing loss indication list 2000
Patricia Gillilan - Audiologist USA
References
Northern and Downs Text - Hearing in Children 5th edition 2002
Newton - Paediatric Audiological Medicine 2002
Delene Thomas RBWH Co-ordinator HHP
Katrina Roberts TTH Co-ordinator HHP
Reviewed May 2007 Kelly Nicholls RCH Audiologist
Jackie Moon MMH Audiologist
Sree Aithal TTH Audiologist