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Pfeiffer Syndrome Pfeiffer Syndrome *Mrs.Saranya.S Abstract: Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis) and other birth defects in the hands and feet. There are three subtypes of the syndrome, with Types II and III being the most severe. There is no specific treatment for Pfeiffer syndrome. Treatment is directed at improving the individual's symptoms. Pfeiffer syndrome is associated with mutations (changes) in the FGFR genes.It affects about 1 out of every 100,000 children. Pfeiffer syndrome can be inherited or can occur due to a new mutation, or change, in the involved gene. In cases of severe Pfeiffer syndrome, a new mutation is typically the cause. Key words: Pfeiffer syndrome, craniosynstosis, mutations, birth defect . INTRODUCTION Pfeiffer syndrome is a rare birth Pfeiffer syndrome type I or Classic defect ,affects the shape of a baby’s skull Pfeiffer syndrome: It includes and face.In new born, the top of the skull caraniosynstosis and “midface isn’t one solid piece. It’s actually made up of deficiency” Child with Type I Pfeiffer several bones with special joints between syndrome usually have a normal lifespan them. This allows it to expand so the brain and typical intelligence. has room to grow. Normally, the skull bones Pfeiffer syndrome type II The child come together only after the head reaches it present with cloverleaf-shaped skull due full size. In child with Pfeiffer syndrome, the to extensive fusion of bones as well as plates join together too early. The skull can’t proptosis(abnormal protrusion or expand as the brain grows, which affects the displacement of an eye or other body shape of the head and face.Pfeiffer part) and child has poor prognosis and syndrome is also referred to as severe neurological problems generally acrocephalosyndactyly type V(ACSV), with early death. craniofacial-skeletal-dermatologic Pfeiffer syndrome type III : Those with syndrome, and Noack syndrome.1 Types III Pfeiffer syndrome have more severe defects that can impair brain TYPES: development and functions.3 Pfeiffer syndrome is subdivided into three types. 52 Tutor, Kasturba Gandhi Nursing College, Puducherry CAUSES Other disorders are related to pfeiffer syndrome Pfeiffer syndrome is inherited as There is a spectrum of disorders an autosomal dominant genetic disorder, associated with changes to the FGFR which means ,only a single copy of an genes that results in facial defects. These abnormal gene is necessary to cause the conditions include the following condition. The abnormal gene can be Apert syndrome-A genetic disorder inherited from either parent or be a result characterized by premature fusion of of a new mutation in the affected certain skull bone. individual2. Almost all cases of Pfeiffer Crouzon syndrome-Affects the first syndrome type II and type III originate brachial arch which is the precursor from new mutations because the parents for formation of maxilla and mandible are unaffected. bone Pfeiffer syndrome type I is associated Beare-Stevenson syndrome- A genetic with mutations in genes known as FGFR1 disorder characterized by premature and FGFR2 Pfeiffer syndrome type II and fusion of certain skull bone along with type III are associated with mutations in a skin abnormality called cutis FGFR2. gyrata(furrow and wrinkled appearance of the skin) Older age in the father is a known risk FGFR2-related isolated coronal factor for acquiring Pfeiffer syndrome in synostosis— Uni or bi coronal the offspring due to new mutations. carniosyntosis Jackson-Weiss syndrome- SIGNS AND SYMPTOMS: Characterized by craniosynostosis Bulging eyes and foot abnormalities which is the Wide-set eyes most consistent feature High forehead Crouzon syndrome with Beaked nose acanthosisnigricans (AN)- Underdevelopment of the upper jaw Craniosynostosis with skin Prominent lower jaw abnormality characterized by thick Protrusion of the eyes ,dark,velvety skin in bodyfolds and Hearing loss (in over 50% of those creases,including the neck and affected) underarms. Short fingers and toes (brachydactyly) Muenke syndrome-FGFR3 related 4 Webbing or fusion between the digits craniosynostosis. (syndactyly) Dental problems TREATMENT: Wide thumbs and big toes that bend There is no treatment that can away from the other digits reverse Pfeiffer syndrome, but treatments Cloverleaf-shaped head (in Type II are available that address each individual's specific symptoms. Pfeiffer syndrome)1 Treatments may be needed from a variety Diagnosis: of specialists, including surgeons, Family History/Pedigree pediatricians, otolaryngologists (ENT Physical Exam/History specialists), neurologists, or others. X-rays Reconstructive surgeries can help CT scan overcome some of the physical defects Genetic tests associated with the syndrome. Surgery (taking a blood or saliva sample to tends to play a key role in treatment. 53 check for the gene) Skull surgery: Most children have the first Reference: surgery to reshape their skull before 18 . Robin NH, Falk,MJ;Haldeman- months old.For children under 3 months, Englert CR, Eagle KA(2007);FGRF- this can be done with very small openings Related in the head. For older children, doctors use cranisynostosissyndromes.GeneRev traditional surgery. Typically, children will iews.NCBI.PMID 20301628, need two to four skull surgeries over the . Cohen ,M.M.Jr( 1993);Pfeiffer course of their lives. syndrome update,clinical subtypes and guidelines for differential Midface surgery: Some children may diagnosis.Am J.Med.Genet.45,300- need it to correct problems in their jaw 307 and bring their midface bones forward. National Institutes of health ,Genetic Children are usually at least 6 years and rare Disease before this surgery is done. Midface (GARD)Infromation surgery can help remove Centre(2016);Pfeiffer syndrome blockages.surgeon can remove :Symptoms the tonsils or adenoids . Stevens CA,Roeder Some children have blockages that ER,Ser351Cys(2006);Mutation in make it hard for them to breathe. This the fibroblast growth factor leads to sleep apnea. Wearing a receptor 2 gene results in severe “continuous positive airway pressure Pfeiffer syndrome.Clin mask” --CPAP for short is a standard Dysmorpho;l;15:187-8 treatment for sleep apnea. National Organization for Rare For severe cases, tracheostomy is done for Disorders. "Pfeiffer syndrome." Pub children too young to have other surgeries 2015. to correct breathing problem.5 54 .
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