Version May 2024
| Syndrome | Features | Caused by mutation | Sensorineural | Conductive | Mixed |
| Waardenburg syndrome (AD) | White forelock, heterochromic irides, broad mandible, deafness | X | X | ||
| Usher syndrome (AR) | Retinitis pigmentosa, ataxia, deafness | X | X | ||
| Pendred syndrome (AR) | Familial goiter, dysfunctional iodide organization, deafness | X | X | ||
| Alport syndrome (XL, AR, AD) | Nephritis, deafness, lens, defects, retinitis | X | X | ||
| Craniofacial anomalies (eg, Apert syndrome, Pfeiffer syndrome, Crouzon syndrome) | Craniosynostosis, micrognathia, syndactyly | X | X | X | |
| CHARGE (AD, isolated cases) | Choanal atresia, colobomas, heart defect, intellectual disability, genital hypoplasia, ear anomalies, deafness | X | X | X | |
| Hemifacial microsomia (oculo-auriculo-vertebral spectrum, Goldenhar syndrome) (sporadic, AD) | Facial hypoplasia, ear anomalies, hemivertebrae, parotid gland dysfunction | X | X | X | |
| Mucopolysaccharidosis Hurler (AR), Hunter (XL), Maroteaux-Lamy (AR) | Coarse facies, stiff joints, intellectual disability, cloudy corneas | X | X | ||
| Treacher-Collins syndrome (AD) | Facial malformation, cleft palate, deafness | X | X | ||
| Otopalatodigital syndrome (XL) | Deafness, cleft palate, broad digits | X | |||
| Stickler syndrome (AD) | Cleft palate, micrognathia, myopia, cataracts, spondyloepiphyseal dysplasia, deafness | X | X | ||
| LEOPARD syndrome (AD) | Multiple lentigines, pulmonic stenosis, hypertelorism, deafness, genital anomalies | X | X | ||
| Ciliary dyskinesia (AR) | Situs inversus, immobile cilia, heart defects, splenic anomalies, deafness | X | |||
| Cockayne syndrome (AR) | Retinal degeneration, senile-like changes, growth retardation, photosensitivity, deafness | X | X | ||
| Achondroplasia (AD) | Short limbs, hydrocephalus | X | X | ||
| Branchio-oto-renal syndrome (AD) | Branchial anomalies, ear malformations, renal anomalies | X | X | X | X |
| Klippel-Feil syndrome (sporadic, AD, AR) | Fused cervical vertebrae, webbed neck, deafness, congenital heart defect | X | X | X | |
| Duane syndrome (sporadic, AD) | Ocular strabismus, ear anomalies, skeletal anomalies, cranial nerve palsies, deafness | X | X | ||
| Marfan syndrome (AD) | Lens subluxation, arachnodactyly, aortic aneurysm, hyperextensibility, deafness | X | X | X | X |
| Moebius syndrome (sporadic, AD, AR) | Cranial nerve palsies, limb anomalies, hypoglossia, micrognathia, deafness | X | |||
| Muckle-Wells syndrome (AD) | Amyloid nephropathy, urticaria, deafness | X | X | ||
| Pierre Robin syndrome (AR, XL) | Micrognathia, cleft palate, glossoptosis, deafness | X | |||
| Jervell and Lange-Nielsen syndrome (AR) | Long QT, deafness | X | X | ||
| Neurofibromatosis type I (AD) | Neurofibromas, café-au-lait spots, optic glioma | X | |||
| Turner syndrome (sex chromosome disorder) | Short stature, ovarian failure, cardiac malformations, renal anomalies | X | X | X | |
| Osteogenesis imperfecta (AD, AR) | Fragile bones, blue sclera | X | X | ||
| Ehlers-Danlos syndrome (AD, AR) | Joint hyperextensibility, fragile skin | X | X | ||
| Konigsmark syndrome (AD) | Low-frequency hearing loss, macrothrombocytopenia | X | X |
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