About Pfeiffer Syndrome Type 2
Pfeiffer syndrome type 2 is a rare autosomal dominant genetic defect resulting from premature fusion of the skull sutures. The premature fusion of the skull sutures can significantly impact brain growth, which may lead to problems associated with overall development and nervous system function. It falls under the umbrella term of velo-cardio-facial syndrome. Salient features of velo-cardio-facial syndrome may include heart defects, unusual facial appearence, cleft-palate and problems with hearing.
Pfeiffer Syndrome Symptoms
Pfeiffer syndrome type 2 is characterised by premature fusion of the skull sutures, midface hypoplasia, high prominent forehead, broad and deviated thumbs and big toes, and partially webbed fingers and toes (Vanek & Losan, 1982). Further characteristics may include eyes that are wide-set, an underdeveloped jaw and a beak-like nose. Children born with Pfeiffer syndrome type 2 are more often than not born with a conductive hearing loss, complications with dentition and congenital heart defects.
A holistic approach is vital in influencing the assessment, diagnosis and intervention required for the total management of patients with Pfeiffer syndrome type 2. Children with Pfeiffer syndrome type 2 generally present with abnormal neural transmissions in their auditory brainstem responses, which later on may cause peripheral and central auditory processing disorders (Church, Jenkins, Rozzelle, Eldis, & Kazzi, 2007). Auditory processing disorders can influence the acquisition of language skills, causing potential problems with listening, reading, spelling, written language and memory. Therefore, a Speech Pathologist will have an ongoing role as the child develops to enhance communication potential. Children with Pfeiffer syndrome 2 will more than likely have speech sound production difficulties, due to conductive hearing loss as a child and may find it difficult to hear certain speech sounds. Furthermore, children with Pfeiffer syndrome type 2 often have early feeding difficulties presenting with oral hypersensitivity and sensory defensiveness (Morris & Klein, 1987). The Speech Pathologist plays a vital role in incorporating activities to create more sensory awareness during meals in order to reduce oral hypersensitivity, as well as improving oromotor function to enhance speech sound development.
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This article was written by our speech pathologist Eugene Pillay who is a Speech Pathology Australia member. To find out more about how speech therapy can help people with Pfeiffer Syndrome type 2 or to make an appointment with one of our speech pathologists contact us today.
Vanek, J., & Lasoan, F. (1982). Pfeiffer’s type of acrocephalsyndactyly in two families. Journal of Medical Genetics, 19, 289-292. Church, M.W., Jenkins, L.P., Rozzelle, A.A., Eldis, F.E., & Kazzi, S.N. (2007). Auditory brainstem response abnormalities and hearing loss in children with craniosynostosis. American Academy of Paediatrics, 119(6), 1351-1360. Morris, S.E., & Klein, M.D. (1987). Pre-feeding skills. Arizona, USA: Communication Skill Builders. For more information about Pfeiffer Syndrome see the genetics home reference, click here.