Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and , a high forehead, an underdeveloped upper jaw, and a beaked nose.
More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common. In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. and (brachydactyly) are also common, and there may be some between the digits (syndactyly). Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above.
Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. In addition, individuals with type 2 or 3 can have fusion of the bones (ankylosis) in the elbow or other joints, limiting mobility, and abnormalities of the face and airways, which can cause life-threatening breathing problems.
Type 2 is distinguished from type 3 by the presence of a , which is caused by more extensive fusion of bones in the skull.See Also: Types Of Braking System
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Pfeiffer syndrome Infant with Pfeiffer syndrome type 1, showing brachycephaly, coronal synostosis, broad and deviated thumbs and big toes, and finger and toe syndactyly Causes Genetic Frequency 1 per 100,000 births Pfeiffer syndrome is a very rare genetic disorder characterized by the premature fusion of certain bones of the skull which affects the shape of the head and face. In addition, the syndrome includes abnormalities of the hands (such as wide and deviated thumbs) and feet (such as wide and deviated big toes).
Pfeiffer syndrome affects about 1 in 100,000 births. Signs and symptoms Many of the characteristic facial features result from the premature fusion of the skull bones (craniosynostosis). The head is unable to grow normally, which leads to a high prominent forehead (turribrachycephaly), and eyes that appear to bulge (proptosis) and are wide-set (hypertelorism). In addition, there is an underdeveloped upper jaw (maxillary hypoplasia).
About 50 percent of children with Pfeiffer syndrome have hearing loss, and dental problems are also common. In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits (pollex varus and hallux varus). Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly). Cause Pfeiffer syndrome is strongly associated with mutations of the fibroblast growth factor receptor 1 (FGFR1) on chromosome 8 or the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10.
 These genes code for fibroblast growth factor receptors, which are important for normal bone development.Advanced paternal age is thought to be a risk factor for sporadic cases of Pfeiffer syndrome due to an increase in mutations in sperm as men become older. Classification The most widely accepted clinical classification of Pfeiffer syndrome was published by M. Michael Cohen in 1993.
 Cohen divided the syndrome into three possibly overlapping types, all of which are characterized by broad thumbs, broad great toes, brachydactyly, and possibly syndactyly: Cloverleaf-shaped head and bulging eyes of infant with Pfeiffer syndrome type 2 Type 1, also known as classic Pfeiffer syndrome, includes craniosynostosis and "midface deficiency." This type is inherited in an autosomal dominant pattern.
Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Type 2 includes a cloverleaf-shaped skull (Kleeblattschädel) due to extensive fusion of bones, as well as severe proptosis. This type occurs sporadically (i.e., does not appear to be inherited) and has "a poor prognosis and severe neurological compromise, generally with early death." Type 3 includes craniosynostosis and severe proptosis.
This type occurs sporadically (i.e., does not appear to be inherited) and has "a poor prognosis and severe neurological compromise, generally with early death." Management The key problem is the early fusion of the skull, which can be corrected by a series of surgical procedures, often within the first three months after birth. Later surgeries are necessary to correct respiratory and facial deformities.
Outcomes Children with Pfeiffer syndrome types 2 and 3 "have a higher risk for neurodevelopmental disorders and a reduced life expectancy" than children with Pfeiffer syndrome type 1, but if treated, favorable outcomes are possible. In severe cases, respiratory and neurological complications often lead to early death. History The syndrome is named after Rudolf Arthur Pfeiffer (1931-2012). In 1964, Pfeiffer described eight individuals in three generations of a family who had abnormalities of the head, hands, and feet (acrocephalosyndactylia) that were inherited in an autosomal dominant pattern.
 Society and culture In 1996, a baby boy was born to (the artist formerly known as) Prince and wife Mayte Garcia. The highly anticipated child named Amiir (which means "prince" in Arabic), was diagnosed at birth with Pfeiffer syndrome type 2, which is incompatible with life. The infant survived several days until the parents agreed that heroic measures be discontinued. In 1997, after Garcia's former personal assistants raised concerns about the manner of death, the Hennepin County, Minnesota medical examiner performed an investigation and declared that the death was due to natural causes (i.
e. it was not a homicide). In 2014, a mother of a boy in Texas with Pfeiffer syndrome type 1 posted a photograph of the child to her blog. In 2016, she discovered that the photograph had been used in a meme comparing her son to a pug. Her efforts to remove the meme from the Internet, especially social media such as Instagram, Twitter, and Facebook, attracted international attention. References ^ a b c d e f g Vogels A, Fryns JP (2006).
"Pfeiffer syndrome". Orphanet J Rare Dis. 1: 19. doi:10.1186/1750-1172-1-19. PMC 1482682 . PMID 16740155. ^ Muenke M; Schell U; Hehr A; Robin NH; Losken HW; Schinzel A; et al. (1994). "A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome". Nat Genet. 8 (3): 269–74. doi:10.1038/ng1194-269. PMID 7874169. ^ Rutland P; Pulleyn LJ; Reardon W; Baraitser M; Hayward R; Jones B; et al.
(1995). "Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes". Nat Genet. 9 (2): 173–6. doi:10.1038/ng0295-173. PMID 7719345. ^ Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, et al. (1995). "Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome". Hum Mol Genet. 4 (3): 323–8. doi:10.1093/hmg/4.3.323. PMID 7795583.
^ Chan CT, Thorogood P (1999). "Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development". Pediatr Res. 45 (1): 46–53. doi:10.1203/00006450-199901000-00008. PMID 9890607. ^ Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, et al. (2000). "Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome".
Am J Hum Genet. 66 (3): 768–77. doi:10.1086/302831. PMC 1288162 . PMID 10712195. ^ National Institutes of Health, Genetic and Rare Diseases (GARD) Information Center (2016-04-01). "Pfeiffer syndrome: Symptoms". Retrieved 2016-05-08. ^ a b Cohen MM (1993). "Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis". Am J Med Genet. 45 (3): 300–7. doi:10.1002/ajmg.
1320450305. PMID 8434615. ^ Robin NH; Scott JA; Arnold JE; Goldstein JA; Shilling BB; Marion RW; et al. (1998). "Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification". Am J Med Genet. 75 (3): 240–4. doi:10.1002/(sici)1096-8628(19980123)75:3<240::aid-ajmg2>3.3.co;2-c. PMID 9475589. ^ synd/3477 at Who Named It? ^ Pfeiffer RA (1964). "Dominant erbliche Akrocephalosyndaktylie" [Dominant Hereditary Acrocephalosyndactylia].
Zeitschrift für Kinderheilkunde (in German). 90: 301–20. doi:10.1007/BF00447500. PMID 14316612. ^ a b Lerner, Maura (1997-03-28). "Prince's court case touches on 2 issues: A family's right to privacy, medical ethics". Star Tribune. Minneapolis – via NewsBank. (Subscription required (help)). ^ Chanen, David (1997-06-14). "Ruling: Prince's baby died from natural causes". Star Tribune. Minneapolis – via NewsBank.
(Subscription required (help)). ^ a b c Pelletiere, Nicole (2016-02-02). "Mom Defends Son Against Offensive Internet Meme". ABC News. Retrieved 2016-05-08. ^ Hernandez, Vittorio (2016-02-05). "Texas mum mad at use of photo of son with rare disorder Pfeiffer syndrome to make cruel memes". International Business Times, Australia Edition. Retrieved 2016-05-08. ^ "Mutter wehrt sich gegen Witze, die auf Kosten ihres kranken Sohnes gemacht werden" [Mother defends against jokes that are made at the expense of her sick son].
Stern (in German). 2016-02-08. Retrieved 2016-05-08. External links Classification V · T · D ICD-10: Q87.0 ICD-9-CM: 755.55 OMIM: 101600 MeSH: D000168 DiseasesDB: 32145 External resources Orphanet: 710 Robin, NH; Falk, MJ; Haldeman-Englert, CR (2011-06-07) [Initial posting 1998]. "FGFR-Related Craniosynostosis Syndromes". GeneReviews. NCBI. PMID 20301628. Hamm, A; Robin, N (Oct 2014).
"Pfeiffer syndrome". Orphanet. ICD-10 Q87.0. v t e Congenital abnormality syndromes (Q87, 759.7) Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome other: Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange Syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel-Trenaunay-Weber syndrome Madelung's disease Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (Keutel syndrome, Timothy syndrome) 15 (Marfan syndrome) 19 (Donohue syndrome) Multiple Fryns syndrome v t e Cell surface receptor deficiencies G protein-coupled receptor (including hormone) Class A TSHR (Congenital hypothyroidism 1) LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty) FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis) GnRHR (Gonadotropin-releasing hormone insensitivity) EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) AVPR2 (Nephrogenic diabetes insipidus 1) PTGER2 (Aspirin-induced asthma) Class B PTH1R (Jansen's metaphyseal chondrodysplasia) Class C CASR (Familial hypocalciuric hypercalcemia) Class F FZD4 (Familial exudative vitreoretinopathy 1) Enzyme-linked receptor (includinggrowth factor) RTK ROR2 (Robinow syndrome) FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome) FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome) FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) INSR (Donohue syndrome Rabson–Mendenhall syndrome) NTRK1 (Congenital insensitivity to pain with anhidrosis) KIT (KIT Piebaldism, Gastrointestinal stromal tumor) STPK AMHR2 (Persistent Müllerian duct syndrome II) TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia) TGFBR1/TGFBR2 (Loeys–Dietz syndrome) GC GUCY2D (Leber's congenital amaurosis 1) JAK-STAT Type I cytokine receptor: GH (Laron syndrome) CSF2RA (Surfactant metabolism dysfunction 4) MPL (Congenital amegakaryocytic thrombocytopenia) TNF receptor TNFRSF1A (TNF receptor associated periodic syndrome) TNFRSF13B (Selective immunoglobulin A deficiency 2) TNFRSF5 (Hyper-IgM syndrome type 3) TNFRSF13C (CVID4) TNFRSF13B (CVID2) TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A) Lipid receptor LRP: LRP2 (Donnai–Barrow syndrome) LRP4 (Cenani–Lenz syndactylism) LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1) LDLR (LDLR Familial hypercholesterolemia) Other/ungrouped Immunoglobulin superfamily: AGM3, 6 Integrin: LAD1 Glanzmann's thrombasthenia Junctional epidermolysis bullosa with pyloric atresia EDAR (EDAR hypohidrotic ectodermal dysplasia) PTCH1 (Nevoid basal-cell carcinoma syndrome) BMPR1A (BMPR1A juvenile polyposis syndrome) IL2RG (X-linked severe combined immunodeficiency) See also cell surface receptors Retrieved from "https://en.