Apert | Patent cochlear aqueduct, enlarged internal auditory canal, craniofacial dystosis, brachiocephaly, spina bifida, hypertelorism, syndactyly, cleft palate | Fixed stapes |
Beckwith–Wiedemann | Exophthalmos, macroglossia, gigantism, auricular deformities, facial nevus flammeus, midface hypoplasia, organomegaly of viscera, genitourinary anomalies, advanced bone age, neonatal hypoglycemia | Fixed stapes |
Branchio-oto-renal (BOR) syndrome | Branchial clefts, preauricular pits or cysts, canal atresia, abnormal middle ear, dilated vestibular aqueduct, Mondini dysplasia/cochlear hypoplasia, renal abnormalities including cysts or agenesis | Hypoplastic or fused ossicles, stapes fixation, absent oval window, incus malformation |
CHARGE | Coloboma, heart anomalies, choanal atresia, mental retardation, genital anomalies, external and internal ear anomalies | Aplasia or malformation of stapes and incus, aplasia of oval and round windows |
Congenital rubella | Inner ear anomalies, mental retardation, microcephaly, ocular abnormalities, thrombocytopenia, cardiovascular deformities, deformities of lower extremities | Fixed malleus head, hypoplasia of incudal ligament, malformation of stapes, fixed stapes, persistent mesenchyme |
Congenital syphilis | Malformation of the temporal bone, inner ear anomalies, perforated nasal septum, interstitial keratitis, Hutchinson teeth | Fixed and hyperplastic malleus, spongy long process of incus, malformation of stapes |
Crouzon | Premature craniosynostoses, midfacial hypoplasia, ocular and auricular deformities, underdevelopment of periosteal portion of labyrinth, reduced periosteal layer of petrous bone, hard cleft palate, cleft palate | Fixed malleus, malformed or fixed stapes, hypoplasia of middle ear |
DiGeorge | Auricular deformities, hypoplastic thymus, aortic arch anomalies, patent ductus arteriosus, thyroid agenesis, acrania, microcephaly, micrognathia, short philtrum, cleft palate or bifid uvula | Atresia of EAC, aplasia of ossicles, aplasia of oval window, hypoplastic facial nerve, absent stapedius muscle, hypoplasia of tympanic cavity |
Goldenhar | Unilateral facial hypoplasia, dermoids, lipodermoids, lipomas of eyes, vertebral anomalies, malformation of pinna, micrognathia, cleft lip and palate, laryngeal anomalies | EAC atresia, malformation or aplasia of ossicles, hypoplasia of oval window, chorda tympani, facial nerve |
Hurler | Dwarfism, auricular deformities, hepatosplenomegaly, mental retardation, hypertelorism, facial deformities, skeletal deformities, broad stubby fingers, increased body hair, cardiac anomalies | Aplasia of incudomalleal joint, malformation of stapes, fibrous tissue replacement of otic capsule, persistent mesenchyme overlying oval and round window, underdevelopment of mastoid air cells, hypertrophied mucosa |
Klippel–Feil | Fused cervical vertebrae, pectoral girdle deformities, auricular deformities, inner ear anomalies, spina bifida, cleft palate | Atresia of EAC, aplasia of ossicles, malformation of malleoincudal joint, fused short process of incus, aplasia of lenticular process, fused long process of incus, fixed stapes, fistula of stapes footplate, aberrant course of facial nerve |
Osteogenesis imperfecta | Blue sclerae, multiple bone fractures, skeletal deformities, abnormal tooth dentin, weak joints, cardiovascular and platelet anomalies, macrocephaly | Malformation of stapes head and crura, fragile stapes, otosclerosis |
Otopalatodigital | Frontal and occipital bossing, inner ear anomalies, hypertelorism, broad nasal root, small mandible, cleft palate, dwarfism, skeletal abnormalities, mental retardation | Fetal-shaped ossicles, fixed stapes, aplasia of round window |
Treacher–Collins | Antimongoloid palpebral fissure, coloboma, micrognathia, hypoplasia of malar bones and infraorbital rim, short palate, cleft lip and palate, auricular deformities, clinodactyly and sternal deformities, mild mental retardation | Atresia or stenosis of EAC, aplasia of tensor tympani muscle, stapedial muscle and tendon, malformation of ossicles, aberrant course of facial nerve, hypoplasia of epitympanum and mesotympanum |
Trisomy 21 (Down syndrome) | Auricular deformities, hypertelorism, epicanthal fold, protruding tongue, high arched palate, inner ear anomalies, cardiovascular defects, mental retardation | Stenosis of EAC, persistent mesenchyme, wide angle of facial genu, malformation of ossicles, high jugular bulb, poor mastoid pneumatization, eustachian tube stenosis |
Turner | XO chromosome, auricular deformities, short stature, sexual gonadal dysplasia, short and thick neck, antimongoloid palpebral fissure, cardiovascular anomalies, renal malformations, mandibular hypoplasia | Underdevelopment of mastoid air cells, malformation of ossicles |
VATER | Vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, renal defects, skeletal deformities, cardiac defects | Hypoplasia of facial nerve, chorda tympani, malformation of stapes |