Pfeiffer Syndrome

Poly Clinic Nishita Doolabh Josslyn Gordon

Understanding Pfeiffer Syndrome

What is it?

Rare genetic disorder Premature fusion of certain bones in the skull

(craniosynostosis)
Prevents normal and symmetric of the brain and skull
What causes it?

Change in the Fibroblast Growth Factor Receptor (FGFR) gene: 1 or 2 Autosomal dominant disorder Affects 1 in 100 000 individuals

Recognising The Syndrome

Typical Physical Characteristics
Craniosynostosis

Broad, short thumbs and toes

Webbing Disproportionately wide head Retruding midface

Small nose
Widely spaced, prominent eyes

Other Characteristics
Developmental delays
Mental retardation Hearing loss Dental problems

Visual deficits

Recognising The Syndrome

X-Rays of the typical physical characteristics associated with Pfeiffer

Three Subtypes of Pfeiffer

Type 1
Type 2 Type 3

Type 1: Classic Pfeiffer

Characterized by: Recessed cheekbones Finger and toe abnormalities Neurologic development and intellect is usually normal Hydrocephalus and hearing loss may occur

Type 2: Cloverleaf
Characterized by: Cloverleaf shaped skull Limited brain growth and mental retardation Abnormal protrusion of the eyes (visual problems) Finger and toe abnormalities Fusion of elbow and knee joints

Type 3
Characterized by: Limited brain growth and mental retardation Abnormal protrusion of the eyes Finger and toe abnormalities Fusion of elbow and knee joints

Diagnosis of Pfeiffer Syndrome

A diagnosis is based on the presence of three key features:

Short toes Premature fusion of cranial bones Short thumbs

Differential Diagnosis
Pfeiffer syndrome may present as similar to the following syndromes:

Congenital

Saethre-Chotzen

Jackson-Weiss

Crouzon

Apert

Clinical features include: bulging eyes, vision problems, cleft lip and palate

Clinical features include: cone shaped head, asymmetrical face, droopy eyelids and widely spaced eyes

Clinical features

malformation of
the skull, face, hands and feet, caused by disturbance during development.

include: fusion of
hands and feet, broad and triangular/bulbous halluces but not of the thumb

Treatment

Accurate diagnosis

Location for
proper treatment Identification of childs needs

An MDT Approach
It was believed that the outcome in children with Pfeiffer Syndrome were so
dismal that early intervention was not beneficial. THIS IS NOT TRUE!

Neurosurgeon Plastic Surgeon Dentist Orthodontist Optometrist Paediatrician

Audiologist Speech Therapist Physiotherapist Occupational Therapist

Podiatrist

Pfeiffer Syndrome and Audiology

A hearing impairment is common Patients typically present with a conductive hearing loss Patients may also present with a mixed hearing loss but rarely a pure sensorineural hearing loss.

Audiogram showing a moderate-severe conductive hearing loss

Cause of Hearing Loss

The high incidence of conductive hearing loss in patients may be the result of one or more of the following:

Atresia (the ear canal is abnormally closed or absent) or stenosis

(narrowing of the ear canal) of the external auditory canal

Structural anomalies in the middle ear e.g. middle ear hypoplasia (underdevelopment of the middle ear)

Malformation of the ossicular chain

Chronic effusions

CT Scan of the head:

A. Normal configuration of the ossicles

B. Patient with Pfeiffer Syndrome: malformed fused

ossicles

Audiologic Test Battery

Immittance Testing Behavioural Measures Otoacoustic Emissions (OAEs) Auditory Brainstem Responses (ABRs)

Case: Type 1 Pfeiffer Syndrome

A 2 year old girl was referred to audiology for a hearing evaluation. She presented with a history of craniosynostosis, limb abnormalities and seizures. She was diagnosed with Type 1 Pfeiffer Syndrome. Her parents were not initially concerned of her hearing and speech development as she had passed the newborn hearing screening conducted using OAEs.

Her Audiological results were as follows: Immittance testing demonstrated type B tympanograms with absent ipislateral acoustic reflexes, bilaterally. The patient demonstrated a moderate conductive loss at three frequencies using and bone conduction thresholds were obtained at 20 dB HL at 500 Hz and 2000 Hz, in free field. Further behavioural examination revealed a speech awareness threshold of 50 dB HL.

Management
Based on the results the patient would require additional objective testing e.g. ABR and DPOAEs to confirm type and degree of hearing loss

Refer to ENT for further assessment and management of abnormal tympanograms (pressure equalizing tubes)

Provide amplification (ALDs)

Continually monitor the patients hearing status

Discussion
How was it possible that the patient passed the newborn

hearing screening?
It is likely that at the time of testing (3 days), the ossicles had not yet fused.

Why was an ABR necessary?

The ABR is necessary to confirm and quantify the degree of the loss. Additionally, the patient was unable to perform earspecific air and bone conduction behavioural tests.

Speech Therapy
Peripheral and Central Auditory processing disorders
Acquisition of receptive and expressive language skills

Potential problems
Listening Reading

Spelling
Written language Memory

Speech Therapy
Feeding difficulties Oral hypersensitivity Sensory defensiveness

Patients have difficulty hearing certain speech sounds and will require intense therapy to work on the development of language and speech

AIM: enhance communication potential

Create sensory awareness

Reduce oral hypersensitivity Improve oromotor function Enhance speech sound development

Occupational Therapy
Fine Motor Skills
ROM

Strategies for ADLs throughout development

Webbed and deviated fingers

Physiotherapy
Respiratory complications
Altered formation of airways

Increase postural support when sitting

Hydrocephalus

Improve hand and shoulder range of movement

Gait improvement/adaptation
low tone

Strategies for movement

Fused knee and elbow joints

Podiatry
Modify footwear
Wide base

Orthotics
Modify gait

More Information
www.ccakids.com/Pfeiffer-syndrome.html

www.thecraniofacial.org

http://www.entwellbeing.com.au/pfeiffer-syndrome

References
Desai, U., Rosen, H., Mulliken, J., Gopen, Q., Meara, J., & Rogers, G. (2010). Audiologic findings in Pfeiffer Syndrome. The Journal of Craniofacial

Surgery, 21(5), 1411-1418.

Madell, J., & Flexer, C. (2008). Pediatric Audiology: Diagnosis, Treatment and Management. New York City: Thieme Medical Publishers. Madell, J., & Flexer, C. (2011). Pediatric Audiology Casebook. New York City: Thieme Medical Publishers. Pillay, E. (2013). Pfeiffer Syndrome: A Speech Pathologists Perspective. Speech Therapy for Children. http://www.entwellbeing.com.au/pfeiffersyndrome.