| Diagnosis |
Main clinical features |
Gene |
Ref. |
| Treacher Collins syndrome |
• Hypoplasia of the zygomatic bones and mandible
• External ear abnormalities frequently associated with hearing impairment
• Coloboma of the lower eyelid
• Absence of the lower eyelashes
• Preauricular hair displacement onto the cheeks
• Craniofacial involvement is generally symmetrical |
TCOF1 |
[88] |
| Townes-Brocks syndrome |
• Imperforate anus
• Dysplastic ears (overfolded superior helices and preauricular tags) frequently associated with sensorineural and/or conductive hearing impairment
• Thumb malformations (triphalangeal thumbs, duplication of the thumb, preaxialpolydactyly or hypoplasia of the thumbs)
• Renal impairment with or without structural abnormalities |
SALL1 |
[89] |
| CHARGE syndrome |
Coloboma of the iris, retina-choroid, and/or disc
Unilateral or bilateral choanal atresia or stenosis
Ear abnormalities (external ear malformation, ossicular malformations, Mondini defect of the cochlea and/or absent /hypoplastic semicircular canals)
Cryptorchidism in males and hypogonadotrophichypogonadism in both males and females
Cardiovascular malformations
Orofacial clefts
Tracheoesophageal fistula
Cranial nerve dysfunction |
CHD7 |
[90] |
| Branchiootorenal spectrum disorders (branchiootorenal and branchiootic syndromes) |
Malformations of the outer, middle, and inner ear
Conductive, sensorineural, or mixed hearing impairment
Branchial fistulae and cysts,
Renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis.
Branchiootic syndrome has the same features as branchiootorenal syndrome but without renal involvement. |
EYA1, SIX5 and SIX1 |
[91] |
| Phenotypic spectrum associated with mutations in EFTUD2 |
Oto-facial abnormalities (acrofacialdysostosis)
Esophageal atresia
Thumb anomalies
Intellectual disability
Zygomatic anomalies
Microcephaly |
EFTUD2 |
[92,93] |
