Table 5 Phenotypes characteristics in head & neck region

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%