1. Syndromes associated with hearing loss
Hearing loss associated with skeletal/ craniofacial abnormalities
Hearing loss associated with neurological disorders
Hearing loss associated with ectodermal or pigmentery anomalies
Hearing loss associated with ophthmological disorders
Chormosomal abnormalities
Hearing loss associated with other miscellaneous anomalies
Hearing loss associated with endocrine/ metabolic/ renal disorders
Hearing disorders in children/ Hala AlOmari

2. 1. Hearing loss associated with skeletal/ craniofacial abnormalities
Treacher Collins syndrome (Mandibulofacial dysostosis)
- narrow face
- abnormal pinnae, atresia, malformed ossicles, mandibular hypoplasia
- usually normal intelligence
- conductive hearing loss secondary to outer/middle ear anomalies
autosomal dominant
* A dysostosis is a disorder of the development of bone, in particular affecting ossification
Hearing disorders in children/ Hala AlOmari

3. 1. Hearing loss associated with skeletal/ craniofacial abnormalities
Goldenhar Syndrome (Oculo-Auriculo- Vertebral
mandibular hypoplasia (incomplete development of the organ)
aural atresia and microtia
abnormalities in ocular, central nervous, pulmonary, cardiovascular, gastrointestinal and renal systems
learning difficulties in a minority
sporadic occurrence (irrigular)

4. 1. Hearing loss associated with skeletal/ craniofacial abnormalities
Klippel Feil (Cervico-oculo-acoustic)
fused cervical vertebrae
short thick neck with restricted movement
outer and middle ear anomalies
SNHL or MHL
Recurrent menengitis has been described to be associated with this syndrome.
usually normal intelligence
sporadic occurrence

5. 1. Hearing loss associated with skeletal/ craniofacial abnormalities
Achondroplasia (short limbed dwarfism)
enlarged head,short limbs, bowing of the lumbar spine
recurrent OME
Can also be associated with SNHL
normal intelligence
autosomal dominant but 80 % new mutations

6. 1. Hearing loss associated with skeletal/ craniofacial abnormalities
Apert syndrome
associated with craniosynostosis (abnormal closure of skull sutures)
midfacial malformation
low set external ears
syndactyly (fusion) of 2nd,3rd and 4th fingers and toes
mild to moderate CHL
learning diffs
autosomal dominant but most are new mutations

7. 1. Hearing loss associated with skeletal/ craniofacial abnormalities
Crouzon syndrome (Craniofacial dysostosis)
craniosynostosis resulting in variable skull deformities
prominent eyes
conductive hearing loss
normal intelligence
autosomal dominant
* craniosynostosis premature fusion of the skull sutures

8. 1. Hearing loss associated with skeletal/ craniofacial abnormalities
Osteogensis imperfecta also known as brittle bone disease
Autosomal dominant condition
Typically causes CHL
Deafness is thought to be due to otoscelerotic changes in the stapedial footplate
High incident of infant death associated with the syndrome due to recurrent bone fractions.

9. 1. Hearing loss associated with skeletal/ craniofacial abnormalities
Cleft palate and lip
CHL
The most common of the deafness syndromes and is associated with sercretory otitis media secondary to myopalatal anomalies.

10. 2. Hearing loss associated with neurological disoprders
Severe infantile muscular dystrophy
Autosomal recessive
Mild to moderate HL
Associated with typical muscle wasting

11. 3. Hearing loss associated with ectodermal or pigmentery anomalies
Waardenburg Syndrome
lateral displacement of the medial canthi (inner corners) of eye,broad nasal root, white forelock, premature greying, changes in skin pigment,
abnormal eye colour including heterochromia (2 colours of eyes) or brown sections in blue eyes
hearing loss varies from normal to profound - can be unilateral
normal intelligence
autosomal dominant with variable expression

12. 3. Hearing loss associated with ectodermal or pigmentery anomalies
Multiple Lentigines Syndrome (LEOPARD)
lentigines - freckly dark brown spots on neck and upper trunk
electrocardiographic defects
ocular hypertelorism (increased distance between the two eyes)
pulmonary stenosis (narrowing of the passage)
abnormalities of genitalia
retardation of growth
Deafness
dominant

13. 4. Hearing loss associated with ophthmological disorders
Usher Syndrome
hearing loss + retinitis pigmentosa (progressive visual problem starting with tunnel vision and night blindness progressing to total blindness)
normal intellectual and neurological function
autosommal recessive (several different genes)
Type 1 - congenital severe to profound h loss, absent vestibular responses and visual problems in childhood
Type 2 - congenital mod-severe HL, normal vestibular responses and development of visual problems in late teens /early twenties
Type 3 - progressive HL with variable onset visual problems

14. 5. Hearing loss associated with chromosomal disorders
Down Syndrome (Trisomy 21)
results when an extra copy of chromosome 21 is present
flat facial appearance
protruding tongue
almond shaped eyes
straight hair
hypotonia (low muscle tone)
small hands with characteristic palmar crease, mild to severe learning difficulties
cardiac abnormalities
small pinnae, narrow ear canals, frequent and persistent OME, mild mod CHL/MHL

15. 5. Hearing loss associated with chromosomal disorders
Trisomy 13 (Patau syndrome)
severe growth retardation
Microcephaly
microphthalmia (micros = small; ophthalmos = eye) with coloboma (small eyes with defect of iris)
cleft lip and palate
polydactyly of fingers and toes
congenital heart and renal problems, profound developmental delay
Hearing loss

16. 5. Hearing loss associated with chromosomal disorders
Trisomy 18 (Edwards syndrome)
similar to Trisomy 13
Turners syndrome
SNHL or CHL
Webbed neck (joined by skin membrane)
Webbing of digits
High arched palate
Microganthia (is a condition where the jaw is undersized. It is also sometimes called "Mandibular hypoplasia“)

17. 6. Hearing loss associated with other miscellaneous anomalies
CHARGE syndrome
c=coloboma (defect of iris, retina or optic disc)
h=congenital heart disease
a=atretic nasal choanae (posterior of the nasal cavity)
r=growth retardation
g=genital defects
e=ear anomalies
- often have abnormal ears and conductive, mixed or SNHL
often have learning difficulties
usually sporadic but can be autosomal dominant

18. 7. Hearing loss associated with endocrine/ metabolic/ renal disorders
Alport Syndrome
progressive hearing loss and kidney disease which can vary from mild problem to kidney failure
normal intelligence
males affected more than females
can be X linked, autosomal dominant or autosomal recessive

19. 7. Hearing loss associated with endocrine/ metabolic/ renal disorders
Pendred Syndrome
congenital mild to severe hearing loss with enlargement of the thyroid gland secondary to metabolic dysfunction at around 10 yrs of age
normal intelligence
autosomal recessive (may also be dominant)

20. Congenital infections which may cause hearing loss
TORCH
Toxoplasmosis
Other (e.g., syphilis)
Rubella (German measles)
Cytomegalovirus (CMV)
Herpes

21. Toxoplasmosis
human infection by the toxoplasma gondii parasite typically occurs via undercooked meat, contaminated raw vegetables or close contact with infected domestic animals
usually asymptomatic but can cross the placenta and infect the foetus.
Most infected infants are asymptomatic but some have severe disease.
Visual problems are most common sequelae but learning difficulties and hearing loss have been reported.

22. Rubella (German measles)
viral infection,can be asymptomatic, however if infection occurs in the first trimester of pregnancy the virus may infect the foetus giving rise to congenital anomalies
most common of these are cardiac problems, eye problems including blindness and deafness
children who are born with the infection may have (IUGR) intrauterine growth retardation, and enlarged liver and spleen (hepatosplenomegaly)

23. Cytomegalovirus (CMV)
CMV is a member of the herpes family of viruses, usually asymptomatic but primary infection in a pregnant woman can result in congenital CMV infection in the foetus, most infected infants are asymptomatic at birth,
infants who are symptomatic show IUGR, micrcephaly, congenital cataracts, hepatosplenomegaly.
Infection at any stage of the pregnancy can damage the foetus, hearing loss is often progressive

24. Herpes Is a sexually transmitted disease
Have influence on the mother and the baby
do not produce any symptoms, these infections generally go undiagnosed.
Babies contract the disease during delivery or get infected from adults
The disease can be localised and can spread to other organs
 the extent of the disease can range from rash on the skin, to involvement of the eyes and mouth, to infection of the brain, to infection throughout the body

25. Other problems commonly associated with hearing loss
Cerebral Palsy (CP)
caused by damage to brain pre, peri or post natally; paralysis, weakness, incoordination or other abnormality of motor function resulting in spasticity, athetosis (involuntary movements), ataxia (loss of ability to control movements)
convulsive disorders and learning difficulties are common, mild to moderate HL, often worse at high frequencies
Cleft lip and /or palate
occurs in about 1 per 900 births
between % have OME (otitis media with effusion)

26. Other problems commonly associated with hearing loss
Hydrocephalus
alteration in circulation or production of CSF, due to obstruction within the ventricular system or exetrnal to the ventricles, if left untreated ventricles will enlarge, compress cortex and skull will enlarge.
Treatment includes identification of underlying cause and relief of pressure usually by insertion of ventriculoperitoneal shunt. Shunt requires revision to allow for growth
Measles
viral infection, can cause hearing loss
Mumps
viral infection, can cause unilateral hearing loss