|
Primary anomaly |
Craniofacial anomalies |
Associated anomalies |
Genetics |
Hearing loss |
---|
Apert syndrome |
Midface hypoplasia |
Hypoplastic maxilla, frontal prominence, proptosis |
Syndactyly, MR |
Dominant |
Flat CHL; fixed stapes |
Crouzon syndrome |
Midface hypoplasia |
Hypoplastic maxilla, parrot nose, hypertelorism, proptosis, ± atretic EAC |
|
Dominant |
1/3 HL; ± mixed HL |
Treacher Collins, 1st and 2nd branchial arch |
Mandible and maxillary hypoplasia |
Fishmouth, antimongoloid eyelids, EAC atresia, auricular deformities |
Normal IQ |
Dominant/injury in utero |
CHL, malformed incus, malleus, nL stapes |
Goldenhar (hemifacial microsomia) syndrome |
Unilateral mandible and zygoma hypoplasia |
Preauricular appendages, unilateral underdeveloped facial muscles |
Colobomas, epibulbar dermoids |
Recessive |
CHL |
Robin sequence |
Mandibular hypoplasia |
Glossoptosis, micrognathia, malformed auricle |
Mobius syndrome, MR, ± subglottic stenosis |
Dominant, ± penetrance |
Mixed HL |
Shprintzen syndrome (velocardiofacial) |
3rd and 4th pharyngeal pouch anomalies |
Cleft palate, hypertelorism with nasal cleft, micrognathia, small ears, and EAC |
Thymic agenesis (DiGeorge), hypoparathyroidism, cardiac anamolies |
Dominant, or random, 22q11 deletion |
Mixed HL, abnormal ossicles, shortened cochlea |
Osteogenesis imperfecta/van der Hoeve syndrome |
Abnormal osteoblastic activity |
Blue sclera |
Fragile bones |
Dominant, ± expressivity |
CHL, otosclerosis, ± floating footplate |
Waardenburg syndrome |
Abnormal tyrosine metabolism |
Wide eyes, white forelock, one brow, patchy skin |
|
Dominant, ± penetrance |
SNHL ± AU |
Alport syndrome |
HL + nephritis |
|
Progressive nephritis, worse in males |
Dominant (not sex linked) |
Progressive SNHL, worse in males, vestibular dysfunction |
Pendred syndrome |
Faulty tyrosine iodination |
Euthyroid goiter |
Nl petrous pyramid, Nl IQ |
Recessive |
U-shaped audiogram |
Jervell Lange-Nielsen syndrome |
|
|
Prolonged QT on EKG, recurrent syncope |
Recessive |
Profound SNHL |
Usher syndrome |
HL + blindness |
Retinitis pigmentosa, progressive blindness |
|
Recessive (type IV = X linked) |
SNHL vestibular dysfunction |
Down syndrome |
|
Mongoloid eyes, flat occiput, small EAC |
MR, C1-C2 laxity, narrow subglottis |
Trisomy 21 |
Mobius syndrome |
|
Facial diplegia, tongue and eye paralysis |
MR, ± missing feet/hands |
? |
Mixed HL |
Charge (association) |
|
Coloboma, heart defects, choanal atresia, retarded growth, genital hypoplasia, ear anomalies |
|
Sporadic |
Mixed HL |
Vater (association) |
|
Vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial and renal dysplasia |
|
Random |
Hurler syndrome |
Mucopolysaccharidosis |
Gargoyle facies |
MR, dwarfism, kyphosis corneal kyphosis, corneal clouding |
Recessive |
Hunter syndrome |
Mucopolysaccharidosis |
Gargoyle facies, prominent brow, lowset ears, prognathism |
Less severe skeletal changes vs. Hurler’s |
X linked |
|
AU, boh ears; CHL, conductive hearing loss; EAC, external auditory canal; HL, hearing loss; MR, mental retardation; Nl, normal; SNHL, sensorineural hearing loss. |