From: Genotype-phenotype associations in microtia: a systematic review
OTHER PHENOTYPES | n | % |
---|---|---|
All Other Phenotypes Found | 458 | 100% |
HEAD | ||
 ORBITAL REGION | ||
  Downward slanting palpebral fissures | 9 | 1.97% |
  Eyelid coloboma | 6 | 1.31% |
  Epicanthic folds | 4 | 0.87% |
  Partial Absent of eyelashes | 4 | 0.87% |
  Hypertelorism | 4 | 0.87% |
  Arched & synophrys eyebrows | 3 | 0.66% |
  Absence of eyelid | 2 | 0.44% |
  Posterior Embryotoxon | 1 | 0.22% |
  Orbital hypoplasia | 1 | 0.22% |
  Broad Medial eyebrow | 1 | 0.22% |
  Exophtalmia | 1 | 0.22% |
  Deep-set eyes | 1 | 0.22% |
  Optic Nerve hypoplasia | 1 | 0.22% |
  Underdeveloped supraorbital ridge | 1 | 0.22% |
  Ptosis | 1 | 0.22% |
  Microphtalmia | 1 | 0.22% |
  Anopthalmia | 1 | 0.22% |
 INFRAORBITAL REGION | ||
  Maxillary hyp. | 6 | 1.31% |
  Prominent maxilla with overbite and malocclusionup | 1 | 0.22% |
  Hypertrofi maxillary sinus | 1 | 0.22% |
  Midface hypoplasia | 1 | 0.22% |
 ZYGOMATIC REGION | ||
  Zygoma / Malar hypoplasia | 12 | 2.62% |
 BUCCAL REGION | ||
  Facial cleft | 10 | 2.18% |
  Cheek soft tissue tags | 1 | 0.22% |
 NASAL REGION | ||
  Flat nose | 3 | 0.66% |
  Triangular nostrils | 3 | 0.66% |
  Prominent Nose | 2 | 0.44% |
  Bulbous nose | 2 | 0.44% |
  Narrow nose | 2 | 0.44% |
  High nasal bridge | 2 | 0.44% |
 ORAL REGION | ||
  High-arched palate | 11 | 2.40% |
  Cleft lip & palate | 10 | 2.18% |
  Cleft palate | 9 | 1.97% |
  Narrowed Palate | 3 | 0.66% |
  Microstomia | 3 | 0.66% |
  Right-sided palatoplegia | 2 | 0.44% |
  Small mouth with full lips | 2 | 0.44% |
  Macrostomia | 2 | 0.44% |
  Cleft lip only | 1 | 0.22% |
  Tented lip | 1 | 0.22% |
  Fissure in the alveolar crest | 1 | 0.22% |
  Per incisors are overjet | 1 | 0.22% |
  Diastema, dental crowding, and unerupted teeth | 1 | 0.22% |
  Downward Slant of mouth right side | 1 | 0.22% |
  Bifid Uvula | 1 | 0.22% |
  Thin upper Lip | 1 | 0.22% |
  Full Bottom Lip | 1 | 0.22% |
  Anterior Open Bite | 1 | 0.22% |
  Hypodontia | 1 | 0.22% |
 MENTAL REGION | ||
  Mandibular hyp. | 57 | 12.45% |
  Micrognathia | 12 | 2.62% |
  Retrusive Mandibular | 3 | 0.66% |
  Retrognathia | 1 | 0.22% |
  Prognathism | 1 | 0.22% |
  Narrow face | 1 | 0.22% |
 AURICULAR REGION | ||
  External auditory canal atresia | 63 | 13.76% |
  Preauricular tags | 28 | 6.11% |
  Hearing loss | 24 | 5.24% |
  External auditory canal stenosis | 19 | 4.15% |
  Middle Ear hypoplasia | 10 | 2.18% |
  Dysplasia M. incudal and Stapes-incudal articulations | 9 | 1.97% |
  Dysplastic Ear | 9 | 1.97% |
  Low set ears | 8 | 1.75% |
  Preauricular pits | 4 | 0.87% |
  Cup Ear deformity | 3 | 0.66% |
  Reduced tympanic volume | 2 | 0.44% |
  Cholesteatoma | 2 | 0.44% |
  Granulomatous eardrum and the mastoid region | 1 | 0.22% |
  Fistula of ears | 1 | 0.22% |
  Multiple pinna on one side | 1 | 0.22% |
 FRONTAL | ||
  Narrowed frontal bone | 2 | 0.44% |
  Forehead retrusion | 1 | 0.22% |
  High anterior hairline | 1 | 0.22% |
  Sloping forehead | 1 | 0.22% |
  High Forehead | 1 | 0.22% |
  Hypertrophied frontal sinuses | 1 | 0.22% |
 MASTOID | ||
  Hypoplasia Mastoid Complex | 1 | 0.22% |
 SKULL & BRAIN | ||
  Microcephaly | 5 | 1.09% |
  Hydrocephalus | 3 | 0.66% |
  Aplasia cutis on the skull | 2 | 0.44% |
  Dolichocephaly | 2 | 0.44% |
  Semilobar HPE | 1 | 0.22% |
  Corpus Callosum Dysgenesis | 1 | 0.22% |
  Frontal Periventricular Gliosis | 1 | 0.22% |
  Metopic craniosynostosis | 1 | 0.22% |
  Trigonocephaly | 1 | 0.22% |
  Aplasia cranial fossa floor | 1 | 0.22% |
  Cerebral hypoplasia | 1 | 0.22% |
  Ventricular dilatation | 1 | 0.22% |
  Incomplete Closure of the anterior fontanelle | 1 | 0.22% |
  Persistent open anterior fontanelle | 1 | 0.22% |
  Two lateral hair whorls | 1 | 0.22% |
  Brachycephaly | 1 | 0.22% |
 NECK | ||
  Tracheoesophageal fistula | 3 | 0.66% |
  Tracheal Stenosis & malacia | 2 | 0.44% |
  Branchial Fistulae | 1 | 0.22% |
  Branchial Tag | 1 | 0.22% |
  Hypersegmented Cervical Vertebrae | 1 | 0.22% |
  Hashimoto Thyroiditis | 1 | 0.22% |
  Esophageal atresia | 1 | 0.22% |
  Short neck | 1 | 0.22% |
 OTHERS | ||
  Dermoid | 8 | 1.75% |
  Facial implantation of the hair | 3 | 0.66% |
  Intellectual disability | 2 | 0.44% |
  Speech delayed | 2 | 0.44% |