Craniofacial Anomalies as Diagnostic Indicators of Communication Disorders
Alice Kahn, Ph.D.
Associate Professor
Speech-language Pathology
Miami University,
Oxford, Ohio
45056
Kahna@muohio.edu
Diagnostic Observation: Understanding What You See
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Why Use Diagnostic Observations?
o Because you can:
 Learn to recognize variations of “normal”
 Identify anomalies that suggest genetically based problems
 Identify anomalies that suggest internal disorders like hearing
loss
 Accurately assess changes in a patient following surgery or
orthodontic treatment
 Use what you observe to prepare a long-term treatment plan
 Collect research data
Four Valuable (and under-used) Diagnostic Observational Landmarks
1.
2.
3.
4.
Profiles
Facial Symmetry
Eyes
Ears
Profiles May Be…
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Orthognathic
Prognathic
Retrognathic
 Orthognathic profiles represent the “ideal” normal profile.
 Retrognathic profiles are common in Caucasians, and indicate mandibular
hypoplasia.
 Prognathic profiles are common in black individuals and often indicate the
presence of anterior crossbite dentition.
Retrognathic Profiles May Indicate:
 Conductive Hearing Loss
 Image: This child has Treacher Collins Syndrome and a hearing loss requiring
amplification.
o Individuals with retrognathic profiles should receive an audiological
evaluation.
 Image: This family has a WS phenotype and receives annual hearing
evaluations.
Facial Symmetry
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Normal Facial Symmetry: Each side of the face is the same size and shape.
Significant Facial Asymmetry: One side of the face differs significantly in size
and shape.
Eyes

Eye Observation Differs from Vision Testing:
o It is not possible to assess vision by external eye appearance alone
o Eyes that appear normal outwardly may have impaired vision
o Speech-language pathologists and audiologists do not diagnose vision
problems
 Eye Observation Differs from Vision Testing (con’t):
o Some eye anomalies suggest the presence of vision problems and the
need for referral to a vision specialist.
o Eye anomalies may suggest the presence of hearing loss or
communication disorders-these conditions must be diagnosed and
treated by a speech-language pathologist.
o Eye anomalies may suggest the presence of genetic syndromes and
the need for referral to a genetic specialist.
Normal Eyes
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Are oriented in a straight line parallel to the floor
Are of equal size
Have pupils of equal size
Have a complete row of upper and lower lashes
Have intact irises that appear the same
Have white sclera
Have epicanthal folds in Asian persons
Have approximately one eye’s width distance between them
Normal Eye Anatomy
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Inner Canthus
Iris
Pupil
Sclera
Outer canthus
Normal Eye Orientation
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All canthi can be connected by a straight line and are parallel to the ground.
Asians DO NOT have slanted eyes.
Palpebral Fissures
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Are the spaces between the upper and lower eyelids
Are normally level and parallel to the ground
Are created by the interaction of brain growth and mid-face bone
development
Are anomalous if they are up-slanting
Are anomalous if they are down-slanting
Up-slanting Palpebral Fissures
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Up-slanting fissures suggest that brain growth was different from normal.
Down-slanting Palpebral Fissures
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Down-slanting palpebral fissures suggest that mid-face bones are
underdeveloped.
Anomalies of the Iris
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Heterochromia iridis
Coloboma iridis
Blue eyes
Arcus
Heterochromia Iridis
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Heterochromia iridis means the eyes have irises of two different colors. This
may be seen as one eye with two colors (eye on left), or as two different
colored eyes in the same individual (one brown eye, and one blue eye, for
example). Heterochromia is NOT associated with vision loss, but IS
associated with hearing loss.
 Image: Note flared eyebrows and heterochromia in individual who is deaf in
one ear.
 Image: Heterochromia in individual with normal hearing.
Heterochromia in One Eye
 Image: This person has heterochromia in one eye and no other craniofacial
anomalies.
Heterochromia Caused by Trauma
 Image: This person has heterochromia resulting from an eye injury in infancy.
**Always ASK about facial anomalies before assuming they are congenital.**
 Image: Heterochromia in a person with WS
 Image: This woman has heterochromia, WS, and normal hearing.
Heterochromia and Hearing Loss
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Heterochromia and hearing loss occur together in a number of conditions.
Individuals who have heterochromia should receive periodic audiologic
exams to monitor their hearing.
Coloboma iridis
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Coloboma iridis is a serious anomaly resulting from failure of embryologic
fusion of the choroid fissure-ultimately the optic nerve. This anomaly MAY
have vision loss associated with it. ALWAYS refer the patient to a vision
specialist, and tell them why.
Mild Coloboma Iridis
 Image: This person has mild coloboma iridis. She has no vision loss associated
with the anomaly.
Blue Eyes

Blue eyes are a feature of many syndromes. Blue eyes are also associated
with poor night vision and photophobia. This child has the bright blue eyes
characteristic of individuals with WS.
Bright Blue Eyes and Photophobia
 Image: This person has bright blue eyes that are sun sensitive even in dim
lighting. She also has poor night vision.
Arcus
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Arci appear as opaque white rings around the outer rim of the iris. They
sometimes occur in people with high cholesterol, and in individuals with
otosclerosis. Their presence suggests the need for audiologic assessment.
Sometimes the cause of arci is unknown.
Eyelid Anomalies
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Dystopia Canthorum
Missing Eyelashes
Dystopia Canthorum
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The inner canthi are displaced laterally, and skin overlying the nasal bridge
covers the sclera with epicanthal folds. This gives the false appearance of
wide set eyes and strabismus. Dystopia canthorum is a major feature of
Waardenburg Syndrome Type I.
Missing Eyelashes
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Absence of the inner third of eyelashes in the lower lid is a characteristic sign
of Treacher-Collins syndrome.
This is a serious anomaly that should never be ignored.
Eyebrow Anomalies
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Synophrys:
o Eyebrows that extend across the nasal bridge are characteristic of several
syndromes, including Waardenburg Syndrome (WS). Synophrys indicates
that the nasal bridge bones are depressed or hypoplastic.
 Image: Full Face View of Child with Multiple Minor Anomalies
o Note synophrys, epicanthal folds, dystopia canthorum, and bright
blue eyes. This child is deaf and now has a cochlear implant.
Ears
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Owls have ears!
Ear Anomalies
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Pre-auricular Pits
Pre-auricular Tags
Image: Pre-auricular Pits
Image: Pre-auricular Tags
Ear Position
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Microtia:
o Microtia is common in individuals with Down Syndrome.
 Image Microtia and Treacher Collins Syndrome
 Image: Ear Anomalies Caused by Trauma
You Are Responsible
With every patient you evaluate:
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Observe facial features
Record what you observe
Refer to appropriate professionals
Treat communication problems resulting from anomalies
 You are responsible for what you don’t do.
 Lack of action can have bad consequences.