Dysmorphology of the Eye and Periorbital Region

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Introduction

Although there is a wide variation of the facial dimensions between ethnicity, gender, and age, careful inspection and selective objective measurements obtained as part of the clinical exam may reveal parameters outside normal standards, which may assist in narrowing a differential diagnosis and ultimately making a diagnosis. Depicted in the following sections are periorbital dimensions along with described growth patterns presented in a tabular format (1-7), followed by selected dysmorphological entities with examples of associated conditions (8-12).

Periorbital Dimensions

Definitions

Outer canthal distance is the distance between the lateral canthi of the eyes.

Inner canthal distance is the distance between the medical canthi of the eyes.

Interpupillary distance is the distance between the pupil centers of the eyes.

Palpebral fissure length is the distance between the inner and outer canthi of the eye; the actual palpebral fissure encompasses the exposed area between the top and bottom eyelids. The adult palpebral fissure is typically about 3 cm horizontally and 0.8 to 1.1 cm vertically.

Schematic

Face-with-captions.jpg

Figure 1. Schematic of the face, frontal view, depicting select periorbital dimensions. Illustration courtesy of Taurice N. Couser.

Growth parameters

Outer Canthal Distance

Table 1. Outer canthal distance (cm), both sexes, at birth (gestational age in weeks).

Table 1 outer canthal birth.jpg --


Table 2. Outer canthal distance (cm), both sexes, birth to 14 (years).

Outer canthal to 14.jpg --


Inner Canthal Distance

Table 3. Inner canthal distance (cm), both sexes, at birth (gestational age in weeks).

Inner canthal birth.jpg

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Table 4. Inner canthal distance (cm), both sexes, birth to 16 (years).

Inner canthal to 16.jpg

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Interpupillary Distance

Table 5. Interpupillary distance (cm), both sexes, at birth (gestational age in weeks).

Interpupillary birth.jpg --


Table 6. Interpupillary distance (cm), birth to 15 (years).

Interpupillary to 15.jpg --


Palpebral Fissure Length

Table 7. Palpebral fissure length (cm), both sexes, birth to 16 (years).

Palpebral fissure to 16.jpg --


Clinical Features and Associated Conditions

Blepharoptosis (Ptosis)

Definition: Drooping of the upper eyelid.

Ptosis.jpg

Figure 2. Schematic of the face, frontal view, depicting bilateral drooping of the eyelids. Illustration courtesy of Taurice N. Couser.


Associated Conditions:

  • ARIMA SYNDROME
  • BLEPHAROPHIMOSIS, PTOSIS, and EPICANTHUS INVERSUS (BPES)
  • CHARGE SYNDROME
  • CONGENTIAL FIBROSIS OF EXTRAOCULAR MUSCLES
  • CORNELIA DE LANGE SYNDROME
  • HORNER’S SYNDROME
  • JOUBERT SYNDROME
  • JUBERG-MARSIDI SYNDROME
  • LEVATOR DEHISCENCE
  • KEARNS-SAYRE SYNDROME
  • MARCUS GUNN PHENOMENON
  • MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC ACIDOSIS AND STROKE-LIKE EPISODES (MERRF)
  • MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY (MNGIE)
  • MOYAMOYA DISEASE, SYNDROMIC
  • MUCOPOLYSACCHARIDOSIS TYPE II (HUNTER SYNDROME)
  • MUENKE SYNDROME
  • MYASTHENIA GRAVIS
  • MYOTONIC DYSTROPHY
  • NAIL-PATELLA SYNDROME
  • NEUROFIBROMATOSIS-NOONAN SYNDROME
  • NOONAN SYNDROME
  • PETERS-PLUS SYNDROME (KRAUSE-KIVLIN SYNDROME)
  • PRIETO SYNDROME
  • RUBINSTEIN-TAYBI SYNDROME
  • SAETHRE-CHOTZEN SYNDROME
  • SYNDROMIC MICROPHTHALMIA 1 (LENZ MICROPHTHALMIA SYNDROME)
  • SYNDROMIC MICROPHTHALMIA 2 (OCULOFACIOCARDIODENTAL SYNDROME
  • SYNDROMIC MICROPHTHALMIA 13
  • THIRD CRANIAL NERVE PALSY
  • TRAUMA
  • WIEACKER-WOLFF SYNDROME
  • WOLFRAM SYNDROME

Downslanting Palpebral Fissures

Definition: Downward slanting of the space between the eyelids

Downward-slant.jpg

Figure 3. Schematic of the face, frontal view, depicting downslanting palpebral fissures; image superimposed over reference position. Illustration courtesy of Taurice N. Couser.


Associated Conditions:

  • APERT SYNDROME
  • BEARE-STEVENSON SYNDROME
  • BECKWITH-WIEDEMANN SYNDROME
  • CHARGE SYNDROM
  • CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA
  • CUTIS LAXA, DEBRE TYPE
  • MUENKE SYNDROME
  • NEUROFIBROMATOSIS-NOONAN SYNDROME
  • NOONAN SYNDROME
  • ORAL-FACIAL-DIGITAL SYNDROME
  • PFEIFFER SYNDROME
  • ROIFMAN SYNDROME
  • SIMPSON-GOLABI-BEHMEL SYNDROME
  • TREACHER COLLINS SYNDROME

Upslanting Palpebral Fissures

Definition: Upward slanting of the space between the eyelids

Upward-slant.jpg

Figure 4. Schematic of the face, frontal view, depicting upslanting palpebral fissures; image superimposed over reference position. Illustration courtesy of Taurice N. Couser.


Associated Conditions:

  • ALAGILLE SYNDROME
  • CK SYNDROME
  • DOWN SYNDROME
  • JUBERG-MARSIDI SYNDROME
  • PETERS-PLUS SYNDROME (KRAUSE-KIVLIN SYNDROME)
  • PRADER-WILLI SYNDROME
  • RENPENNING SYNDROME (MENTAL RETARDATION, X-LINKED, RENPENNING TYPE)
  • WIEACKER-WOLFF SYNDROME

Anophthalmia

Definition: Absence of one or both eyes

Anophthalmia.jpg

Figure 5. Schematic of the face, frontal view, depicting right-sided anophthalmia. Illustration courtesy of Taurice N. Couser.


Associated Conditions:

  • CEREBROOCULONASAL SYNDROME
  • CHARGE SYNDROME
  • GOLDENHAR SYNDROME (HEMIFACIAL MICROSOMIA)
  • GOLTZ SYNDROME
  • SYNDROMIC MICROPHTHALMIA 1 (LENZ MICROPHTHALMIA SYNDROME)
  • SYNDROMIC MICROPHTHALMIA 3 (MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME)
  • SYNDROMIC MICROPHTHALMIA 4
  • SYNDROMIC MICROPHTHALMIA 5
  • SYNDROMIC MICROPHTHALMIA 6
  • SYNDROMIC MICROPHTHALMIA 9 (MATTHEW-WOOD SYNDROME)
  • SYNDROMIC MICROPHTHALMIA 12

Microphthalmia

Definition: One or both eyes are abnormally small

Microphthalmia.jpg

Figure 6. Schematic of the face, frontal view, depicting a microphthalmic right eye; image superimposed over reference position. Illustration courtesy of Taurice N. Couser.


Associated Conditions:

  • AICARDI SYNDROME
  • BLEPHAROPHIMOSIS, PTOSIS, and EPICANTHUS INVERSUS (BPES)
  • CEREBROOCULOFACIOSKELETAL SYNDROME
  • CHARGE SYNDROME
  • CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
  • DUANE-RADIAL RAY SYNDROME
  • GOLDENHAR SYNDROME (HEMIFACIAL MICROSOMIA)
  • GOLTZ SYNDROME
  • LOWE SYNDROME
  • MECKEL SYNDROME
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY
  • NANCE-HORAN SYNDROME
  • NORRIE DISEASE
  • RENPENNING SYNDROME (MENTAL RETARDATION, X-LINKED, RENPENNING TYPE)
  • SYNDROMIC MICROPHTHALMIA 1 (LENZ MICROPHTHALMIA SYNDROME)
  • SYNDROMIC MICROPHTHALMIA 2 (OCULOFACIOCARDIODENTAL SYNDROME)
  • SYNDROMIC MICROPHTHALMIA 3 (MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME)
  • SYNDROMIC MICROPHTHALMIA 5
  • SYNDROMIC MICROPHTHALMIA 6
  • SYNDROMIC MICROPHTHALMIA 7 (MIDAS SYNDROME)
  • SYNDROMIC MICROPHTHALMIA 8
  • SYNDROMIC MICROPHTHALMIA 9 (MATTHEW-WOOD SYNDROME)
  • SYNDROMIC MICROPHTHALMIA 10
  • SYNDROMIC MICROPHTHALMIA 11
  • SYNDROMIC MICROPHTHALMIA 12
  • SYNDROMIC MICROPHTHALMIA 13
  • SYNDROMIC MICROPHTHALMIA 14
  • WITTWER SYNDROME

Hypertelorism

Definition: Abnormally large distance between the eyes with a wide separation between the medial orbital walls

Hypertelorism.jpg

Figure 7. Schematic of the face, frontal view, depicting hypertelorism; image superimposed over reference position. Illustration courtesy of Taurice N. Couser.


Associated Conditions:

  • BARAITSER-WINTER SYNDROME
  • DONNAI-BARROW SYNDROME
  • HAMAMY SYNDROME
  • MECKEL SYNDROME
  • OPITZ SYNDROME
  • TURNER SYNDROME

Hypotelorism

Definition: Abnormally decreased distance between the eyes

Hypotelorism.jpg

Figure 8. Schematic of the face, frontal view, depicting hypotelorism; image superimposed over reference position. Illustration courtesy of Taurice N. Couser.


Associated Conditions:

  • HEREDITARY NEURALGIC AMYOTROPHY
  • HOLOPROSENCEPHALY
  • MECKEL SYNDROME
  • MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
  • SCHILBACK-ROTT SYNDROME

Telecanthus

Definition: Abnormally increased distance between the medial canthi of the eyelids with normally positioned medial orbital walls and interpupillary distance

Telecanthus.jpg

Figure 9. Schematic of the face, frontal view, depicting telecanthus; Illustration courtesy of Taurice N. Couser.


Associated Conditions:

  • AXENFELD-RIEGER SYNDROME
  • BLEPHAROPHIMOSIS, PTOSIS, and EPICANTHUS INVERSUS (BPES)
  • CORNELIA DE LANGE SYNDROME
  • OPITZ SYNDROME
  • ORAL-FACIAL-DIGITAL SYNDROME

Proptosis

Definition: Protrusion of the eyeball

Proptosis.jpg

Figure 10. Schematic of the face, frontal view, depicting bilateral proptosis; image superimposed over reference position. Illustration courtesy of Taurice N. Couser.


Associated Conditions:

  • APERT SYNDROME
  • BEARE-STEVENSON SYNDROME
  • CROUZON SYNDROME
  • CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (CROUZONODERMOSKELETAL SYNDROME)
  • PFEIFFER SYNDROME
  • RETINOBLASTOMA
  • THYROID OPHTHALMOPATHY

Strabismus

Definition: Eyes that are misaligned. There are various types of strabismus, including esotropia and exotropia, which refers to an inward turning misalignment of the eyes and an outward turning misalignment, respectively.

Esotropia.jpg

Figure 11. Schematic of the face, frontal view, depicting esotropia; image superimposed over reference position. Illustration courtesy of Taurice N. Couser.


Exotropia.jpg

Figure 12. Schematic of the face, frontal view, depicting exotropia; image superimposed over reference position. Illustration courtesy of Taurice N. Couser.


Associated Conditions (Strabismus):

  • ALAGILLE SYNDROME
  • ANGELMAN SYNDROME
  • ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME
  • AXENFELD-RIEGER SYNDROME
  • BARDET BIEDL SYNDROME
  • BASAL CELL NEVUS SYNDROME
  • BLEPHAROPHIMOSIS, PTOSIS, and EPICANTHUS INVERSUS (BPES)
  • CHEDIAK-HIGASHI SYNDROME
  • CK SYNDROME
  • COCKAYNE SYNDROME
  • CONGENITAL NYSTAGMUS
  • CROUZON SYNDROME
  • CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (CROUZONODERMOSKELETAL SYNDROME)
  • CUTIS LAXA, DEBRE TYPE
  • DUANE-RADIAL RAY SYNDROME
  • DYSKERATOSIS CONGENITA
  • GAUCHER’S DISEASE
  • GOLDENHAR SYNDROME (HEMIFACIAL MICROSOMIA)
  • GOLTZ SYNDROME
  • INCONTINENTIA PIGMENTI (BLOCH-SULZBERGER SYNDROME)
  • MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
  • MICPCH SYNDROME
  • OCULAR ALBINISM
  • OCULOCUTANEOUS ALBINISM
  • ORAL-FACIAL-DIGITAL SYNDROME
  • PFEIFFER SYNDROME
  • PHACE ASSOCIATION
  • PRADER-WILLI SYNDROME
  • PRIETO SYNDROME
  • PROUD SYNDROME
  • RENPENNING SYNDROME (MENTAL RETARDATION, X-LINKED, RENPENNING TYPE)
  • RETINOBLASTOMA
  • ROIFMAN SYNDROME
  • RUBINSTEIN-TAYBI SYNDROME
  • SAETHRE-CHOTZEN SYNDROME
  • SENGERS SYNDROME
  • SMITH-MAGENIS SYNDROME (CHROMOSOME 17p11.2 DELETION SYNDROME)
  • SPINOCEREBELLAR ATAXIA, X-LINKED 1
  • SYNDROMIC MICROPHTHALMIA 2 (OCULOFACIOCARDIODENTAL SYNDROME)

Epicanthal Folds

Definition: A skin fold of the upper eyelid covering the inner corner of the eye

Epicanthal-folds.jpg

Figure 13. Schematic of the face, frontal view, depicting epicanthal folds; image superimposed over reference position. Illustration courtesy of Taurice N. Couser.


Associated Conditions:

  • BECKWITH-WIEDEMANN SYNDROME
  • CANTU SYNDROME
  • CEREBROOCULONASAL SYNDROME
  • CK SYNDROME
  • DOWN SYNDROME
  • DUANE-RADIAL RAY SYNDROME
  • EHLERS-DANLOS SYNDROME
  • JOUBERT SYNDROME
  • JUBERG-MARSIDI SYNDROME
  • MANNOSIDOSIS
  • MICPCH SYNDROME
  • NEUROFIBROMATOSIS-NOONAN SYNDROME
  • NOONAN SYNDROME
  • PRIETO SYNDROME
  • RUBINSTEIN-TAYBI SYNDROME
  • SIMPSON-GOLABI-BEHMEL SYNDROME

Synophrys

Definition: Presence of abundant hair between the eyebrows

Unibrow.jpg

Figure 14. Schematic of the face, frontal view, depicting synophrys. Illustration courtesy of Taurice N. Couser.


Associated Conditions:

  • BECKWITH-WIEDEMANN SYNDROME
  • CORNELIA DE LANGE SYNDROME
  • MUCOPOLYSACCHARIDOSIS TYPE IIIA (SANFILIPPO SYNDROME A)
  • MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO SYNDROME B)
  • MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO SYNDROME C)
  • MUCOPOLYSACCHARIDOSIS TYPE IIID (SANFILIPPO SYNDROME D)
  • PROUD SYNDROME
  • WAARDENBURG SYNDROME

Deep-Set Eyes

Definition: Eyes set far back into the skull giving the appearance of a prominent brow bone

Deep-set.jpg

Figure 15. Schematic of the face, frontal view, depicting deep-set eyes; image superimposed over reference position. Illustration courtesy of Taurice N. Couser.


Associated Conditions:

  • ALAGILLE SYNDROME
  • AVELLINO CORNEAL DYSTROPHY (COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY)
  • BECKWITH-WIEDEMANN SYNDROME
  • CEREBROOCULOFACIOSKELETAL SYNDROME
  • CHRISTIANSON SYNDROME
  • MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
  • MOYAMOYA DISEASE, SYNDROMIC

References

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