Infobox Disease Name DeSanctis Cacchione syndrome Image Caption DiseasesDB 29880 ICD10 ICD9 ICDO OMIM 278800 MedlinePlus eMedicineSubj eMedicineTopic MeshID DeSanctis Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum XP occurring in association with microcephaly, progressive mental retardation, retarded growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis. ref name Bolognia cite book author Rapini, Ronald P. Bolognia, Jean L. Jorizzo, Joseph L. title Dermatology 2 Volume Set publisher Mosby location St. Louis year 2007 pages isbn 1 4160 2999 0 oclc doi accessdate ref Genetics In at least some case, the gene lesion involves a mutation in the Cockayne syndrome CSB gene. ref http hmg.oxfordjournals.org cgi content full 9 8 1171?view long&pmid 10767341 ref It can be associated with ERCC6 . ref name pmid10767341 cite journal author Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M title Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis cacchione variant of xeroderma pigmentosum journal Hum. Mol. Genet. volume 9 issue 8 pages 1171 5 year 2000 month May pmid 10767341 doi 10.1093 hmg 9.8.1171 url http hmg.oxfordjournals.org cgi pmidlookup?view long&pmid 10767341 ref See also Xeroderma pigmentosum List of cutaneous conditions References reflist DNA repair deficiency disorder DEFAULTSORT Desanctis Cacchione Syndrome Category Genodermatoses Dermatology stub ... more details
between schizophrenia , deletions of chromosomes and microcephaly . ref http www.pnas.org content 107 ... A doi 10.1002 ajmg.a.32434 pmid 18629877 ref See also Microcephaly References Reflist External ... more details
Infobox Disease Name Mowat Wilson syndrome Image Mowat Wilson 2.JPEG Caption Mowat Wilson Syndrome, clinical features of Patient 2 at age A 1 year and 6 months B C 3 years and 5 months D E 8 years and 1 month. DiseasesDB 32975 ICD10 ICD9 ICDO OMIM 235730 MedlinePlus eMedicineSubj eMedicineTopic MeshID Mowat Wilson syndrome is a rare genetic disorder that was clinically delineated by Dr. D. R. Mowat and Dr. M. J. Wilson in 1998. ref cite web url http jmg.bmjjournals.com cgi content abstract 35 8 617 title Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features delineation of a new syndrome and identification of a locus at chromosome 2q22 q23 Mowat et al. 35 8 617 Journal of Medical Genetics accessdate 2007 08 23 format work ref Presentation Image Mowat Wilson.JPEG thumb left Mowat Wilson Syndrome, clinical features of Patient 1 at age A 1 year and 6 months B C 5 years D E 13 years and 8 months F G 18 years. This autosomal dominant disorder is characterized by a number of health defects including Hirschsprung s disease , mental retardation , seizure disorder , delayed growth and motor development, congenital heart disease, genitourinary anomalies and absence of the corpus callosum . However, Hirschsprung s disease is not present in all infants with Mowat Wilson syndrome and therefore it is not a required diagnostic criterion. ref name consultancy Todo A, Harrington JW. http www.consultantlive.com pediatrics display article 10162 1534278?pageNumber 1 New onset seizures in infant with square facies, hypospadias, and Hirschsprung disease . Consultant for Pediatricians. 2010 9 103 107. ref Distinctive physical features include microcephaly , narrow chin, cupped ears with uplifted lobes with central depression, deep and widely set eyes, open mouth, wide nasal bridge and a shortened philtrum . Causes The disorder is expressed in an autosomal dominant fashion and may result from a de novo new mutation or deletions of the ZEB2 also known as ... more details
People with Seckel Syndrome are noted to have microcephaly . Many also suffer from scoliosis , hip ... mutated in some cases of primary isolated microcephaly. Osteodysplastic Primordial Dwarfism, Type ... and hip displacement. Like those with Seckel Syndrome they also often have microcephaly . Microcephalic ... joints, scoliosis , and delayed bone age as well as microcephaly . They will not reach the size ... pericentrin PCNT gene on chromosome 21q22.3 cause microcephaly microcephalic osteodysplastic primordial ... of chromosome s. Mutation s in related gene s are known to cause primary microcephaly MCPH1, CDK5RAP2 ... more details
PBB geneid 259266 Abnormal spindle like microcephaly associated protein also known as abnormal spindle protein homolog or Asp homolog is a protein that in humans is encoded by the ASPM gene . ref name pmid11078481 cite journal author Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, Roberts E, Woods CG title A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31 journal Am. J. Hum. Genet. volume 67 issue 6 pages 1578 80 year 2000 month December pmid 11078481 pmc 1287934 doi 10.1086 316910 url issn ref ASPM is located on Chromosome 1 human chromosome 1 , band q31 1q31 . ref name pmid12355089 cite journal author Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG title ASPM is a major determinant of cerebral cortical size journal Nat. Genet. volume 32 issue 2 pages 316 20 year 2002 month October pmid 12355089 doi 10.1038 ng995 url issn ref Defective forms of the ASPM gene are associated with autosome autosomal recessive primary microcephaly . ref name pmid11078481 ASPM is an acronym for A bnormal Sp indle like, M icrocephaly associated , which reflects its being an ortholog to the Drosophila melanogaster abnormal spindle asp gene. The gene expression expressed protein product of the asp gene is essential for normal spindle apparatus mitotic spindle function in embryonic neuroblast s. ref name pmid12355089 The mouse gene, Aspm , is expressed in the primary sites of prenatal cerebral cortical neurogenesis . The difference between Aspm and ASPM is a single, large insertion coding for so called IQ calmodulin binding motif IQ domains . ref name pmid11911888 cite journal author B hler M, Rhoads A title Calmodulin signaling via the IQ motif journal FEBS Lett. volume ... bookshelf br.fcgi?book gene&part microcephaly GeneReviews NCBI NIH UW entry on Primary Autosomal Recessive Microcephaly References reflist DEFAULTSORT Aspm Gene Category Central nervous system Category ... more details
however, Microcephaly is the only proven malformation, or congenital abnormality, found in the in Utero ... books?id DykKlVU0V oC&pg PA21&lpg PA21&dq microcephaly hiroshima&source bl&ots eqT78xHiCX ... 3&ved 0CCoQ6AEwAg v onepage&q microcephaly 20hiroshima&f false Teratology in the Twentieth Century ... http books.google.ie books?id DykKlVU0V oC&pg PA21&lpg PA21&dq microcephaly hiroshima&source bl&ots ... 3&ved 0CCoQ6AEwAg v onepage&q microcephaly 20hiroshima&f false Teratology in the Twentieth ... more details
protein Name microcephaly, br primary autosomal recessive 1 caption X ray crystallography Biological macromolecular crystallography Crystallographic structure of the N terminus N terminal BRCT domain of human microcephalin MCPH1 ref name Singh 2010 PDB 3KTF cite journal author Singh N, Heroux A, Thompson JR, Mer G title Structure of the N terminal BRCT domain of human microcephalin MCPH1 journal To be published year 2010 doi 10.2210 pdb3ktf pdb ref image Microcephalin.png width HGNCid 6954 Symbol MCPH1 AltSymbols Microcephalin, ref name microcephalin BRIT1 ref name AutoR3 1 EntrezGene 79648 OMIM 607117 RefSeq UniProt Q8NEM0 PDB ECnumber Chromosome 8 Arm p Band 23 LocusSupplementaryData Infobox protein family Symbol Microcephalin Name Microcephalin protein image width caption Pfam PF12258 Pfam clan InterPro IPR022047 SMART PROSITE MEROPS SCOP TCDB OPM family OPM protein CAZy PDB Microcephalin MCPH1 is one of six gene s causing primary microcephaly OMIM 251200 when non functional mutation s exist in the homozygous state. Derived from the Greek language Greek words for small and head , this condition is characterised by a severely diminished human brain brain . ref name microcephalin ref name AutoR3 2 Hence it has been assumed that variants have a role in brain development, ref name AutoR3 3 ref name AutoR3 4 but in normal individuals no effect on mind mental ability, brain size or behavior has been attributed to either this or another similarly studied microcephaly gene, ASPM gene ASPM . ref name AutoR3 5 ref name AutoR3 6 Structure Microcephalin proteins contain the following three domains N terminus N terminal BRCT domain Central microcephalin protein domain InterPro IPR022047 ... author Jackson, A.P., et al. year 1998 title Primary Autosomal Recessive Microcephaly MCPH1 Maps ... bookshelf br.fcgi?book gene&part microcephaly GeneReviews NCBI NIH UW entry on Primary Autosomal Recessive Microcephaly http www.medterms.com script main art.asp?articlekey 34399 Medterms ... more details
. Patients with schizencephaly may also have varying degrees of microcephaly , mental retardation ... like focal cortical dysplasia, microcephaly, polymicrogyria, tuberous sclerosis, hemimegalencephaly ... more details
and nuclear protein, in Indian primary microcephaly families with cortical malformations. journal ... focal cortical dysplasia, lissencephaly, tuberous sclerosis, hemimegalencephaly, schizencephaly, microcephaly ... more details
Orphan date February 2009 PBB geneid 284403 WD repeat containing protein 62 is a protein that in humans is encoded by the WDR62 gene . ref name pmid20729831 cite journal author Bilg var K, Ozt rk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizo lu D, T ys z B, Ca layan AO, G kben S, Kaymak alan H, Barak T, Bakircio lu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Din er A, Johnson MH, Bronen RA, Ko er N, Per H, Mane S, Pamir MN, Yal inkaya C, Kumanda S, Top u M, Ozmen M, Sestan N, Lifton RP, State MW, G nel M title Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations journal Nature volume 467 issue 7312 pages 207 10 year 2010 month September pmid 20729831 pmc 3129007 doi 10.1038 nature09327 ref ref name entrez cite web title Entrez Gene WDR62 WD repeat domain 62 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 284403 accessdate ref Clinical relevance Mutations in the WDR62 gene cause of a wide spectrum of severe cerebral cortical malformations including microcephaly , ref name pmid21496009 cite journal author Bhat V, Girimaji SC, Mohan G, Arvinda HR, Singhmar P, Duvvari MR, Kumar A title Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations journal Clin. Genet. volume 80 issue 6 pages 532 40 year 2011 month December pmid 21496009 doi 10.1111 j.1399 0004.2011.01686.x ref pachygyria with cortical thickening, hypoplasia of the corpus callosum ref name pmid20729831 as well as polymicrogyria . ref name pmid21834044 cite journal author Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB title Whole exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria journal Am. J. Med. Genet. A volume 155A issue 9 pages 2071 7 year 2011 month September pmid 21834044 doi 10.1002 ajmg.a.34165 ref References reflist Further reading refbegin 2 ... more details
Refimprove date December 2007 Infobox Disease Name PAGENAME Image Cataracts due to Congenital Rubella Syndrome CRS PHIL 4284 lores.jpg Caption Congenital Cataracts white pupils due to congenital rubella syndrome DiseasesDB 11729 ICD10 ICD10 P 35 0 p 35 ICD9 ICD9 771.0 ICDO OMIM MedlinePlus 001658 eMedicineSubj emerg eMedicineTopic 388 MeshID D012410 Congenital rubella syndrome CRS can occur in a developing fetus of a pregnant woman who has contracted rubella during her first trimester. If infection occurs 0 28 days before conception, there is a 43 chance the infant will be affected. If the infection occurs 0 12 weeks after conception, there is a 51 chance the infant will be affected. If the infection occurs 13 26 weeks after conception there is a 23 chance the infant will be affected by the disease. Infants are not generally affected if rubella is contracted during the third trimester, or 26 40 weeks after conception. Problems rarely occur when rubella is contracted by the mother after 20 weeks of gestation and continues to disseminate the virus after birth. It was discovered in 1941 by Australian Norman Gregg Norman McAllister Gregg . Presentation Image Rubella serology.png right thumb 300px Congenital rubella serology time line The classic triad for congenital rubella syndrome is Sensorineural hearing loss Sensorineural deafness 58 of patients Eye abnormalities especially retinopathy , cataract and microphthalmia 43 of patients Congenital heart disease especially patent ductus arteriosus 50 of patients Image Congenital Rubella Syndrome, Salt and Pepper Retinopathy.jpg right thumb Salt and pepper retinopathy of the retina is the most common ocular manifestation of congenital rubella. Other manifestations of CRS may include Spleen , liver or bone marrow problems some of which may disappear shortly after birth Mental retardation Small head size microcephaly Eye defects Low birth weight Thrombocytopenic purpura presents as a characteristic Blueberry muffin baby bluebe ... more details
File Ring chromosome.jpg thumb 300px Representative karyotype from a well differentiated transitional cell carcinoma of the bladder. The chromosome indicated by mar represents unidentified marker, r represents ring chromosome. Arrowheads indicate breakpoints. A ring chromosome is a chromosome whose arms have fused together to form a ring. A ring chromosome is denoted by the symbol r. Ring chromosomes may form in cells following genetic damage by mutagens like radiation, but they may also arise spontaneously during development. Formation Image Ring chromosome.gif right thumb 200px Formation of a ring chromosome. Normally, the ends of a chromosome are lost, enabling the arms to fuse together. However, ring formation can also occur with only one end being lost. In rare cases, the telomeres at the ends of a chromosome fuse without any disappearing of material. ref http humrep.oxfordjournals.org cgi reprint 20 2 462 Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome reproductive risk evaluation N ria Arnedo, Carme Nogu s, Merc Bosch and Cristina Templado ref Associated diseases Human genetic disorder s can be caused by spontaneous ring chromosome formation although ring chromosomes are very rare, they have been found in nearly all human chromosomes. Disorders arising from the formation of a ring chromosome include ring chromosome 20 syndrome where a ring formed by one copy of chromosome 20 is associated with epilepsy Ring chromosome 14 syndrome ring chromosome 14 and ring chromosome 13 syndrome are associated with mental retardation and dysmorphic facial features ring chromosome 15 is associated with mental retardation, dwarfism and microcephaly . Ring formation of an X chromosome causes Turner syndrome . Symptoms seen in patients carrying ring chromosomes are more likely to be caused by the deletion of genes in the telomeric regions of affected chromosomes, rather than by the formation of a ring structure itself. Complex rearrangements including ... more details
Infobox disease Name PAGENAME Image Caption DiseasesDB 32625 ICD10 ICD10 Q 97 1 q 90 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID XXXXX syndrome also called pentasomy X or 49,XXXXX is the presence of three additional X chromosome s. Diagnosis is done by karyotyping . Approximately 25 females have been described in medical literature worldwide with this extremely rare condition. Citation needed date August 2011 The condition was first described in 1963. XXXXX syndrome is a type of aneuploidy an abnormal number of chromosomes . Effects Physical traits XXXXX syndrome is associated with microcephaly undersized skull , micrognathia undersized jaw , and round face. The ears are generally low set and malformed. Eyes are upslanting and show palpebral fissures , hypertelorism , and strabismus . Usually the nose is shaped with a broad and depressed nasal bridge and epicanthus , with the mouth having a Cleft palate cleft and highly arched palate, dental abnormalities, and thick, furrowed, and everted lips. The neck is Webbed neck webbed , much like the neck of a woman with Turner s syndrome . The hands and feet are small with overlapping toes, camptodactyly , clinodactyly , talipes equinovarus , and metatarsus varus . Scoliosis generally affects the spine and hypotonia affects the muscles. Internal organs The heart is usually affected by patent ductus arteriosus , atrial septal defect , ventricular septal defect , and aortic dextroposition . There is abnormal lobulation of the lungs and neonatal asphyxia . The ovaries are abnormally shaped with a small uterus and kidney hypoplasia . Growth and development XXXXX syndrome causes mental, growth, and motor retardation. There is occasional delayed puberty. Behavior and performance is affected by opisthotonoid posture . Recent observations have indicated an average of a 10 to 15 IQ point decrease for each extra X chromosome. Thus, the average IQ of XXXXX individuals tends to be between 55 and 70. ref http www.genea ... more details
Infobox disease Name PAGENAME Image Atr x.jpg Caption Child of 8 yrs with the characteristic facial features of ATR X syndrome. Note the upswept frontal hair line, hypertelorism, epicanthic folds, flat nasal bridge, small triangular upturned nose, tented upper lip, everted lower lip and hypotonic facies. DiseasesDB ICD10 ICD9 ICDO OMIM 301040 MedlinePlus eMedicineSubj eMedicineTopic MeshID Alpha thalassemia mental retardation syndrome ATRX , also called alpha thalassemia X linked mental retardation, nondeletion type or ATR X syndrome , ref OMIM 301040 ref is a condition caused by a mutate d gene . Female s with this mutate d gene have no specific signs or features, but may demonstrate skewed X chromosome inactivation . Hemizygous males tend to be moderately Mental retardation mentally retarded and have physical characteristics including coarse facial features, microcephaly small head size , hypertelorism widely spaced eyes , a depressed nasal bridge, a tented upper lip, and an everted lower lip. ref Cite book title Syndromes of the Head and Neck author Robert J. Gorlin, Meyer Michael Cohen, Raoul C. M. Hennekam year 2001 publisher Oxford University Press isbn 0 19 511861 8 page 986 ref It is associated with ATRX . ref name pmid19088125 cite journal author Medina CF, Mazerolle C, Wang Y, et al. title Altered visual function and interneuron survival in Atrx knockout mice inference for the human syndrome journal Hum. Mol. Genet. volume 18 issue 5 pages 966 77 year 2009 month March pmid 19088125 doi 10.1093 hmg ddn424 url http hmg.oxfordjournals.org cgi pmidlookup?view long&pmid 19088125 ref External links http www.ncbi.nlm.nih.gov books NBK1449 GeneReviews NCBI NIH UW entry on Alpha Thalassemia X Linked Mental Retardation Syndrome ATRX Syndrome Alpha Thalassemia Mental Retardation, X Linked XLMR Hypotonic Face Syndrome http www.ncbi.nlm.nih.gov omim 300032,301040,300032,301040 OMIM entries on Alpha Thalassemia X Linked Mental Retardation Syndrome References reflist Cat ... more details
Fetal trimethadione syndrome also known as paramethadione syndrome , German syndrome , tridione syndrome , among others ref Additional names include trimethadione embryopathy and trimethadione syndrome . ref is a set of birth defects caused by the administration of the anticonvulsants trimethadione also known as Tridione or paramethadione to epileptic mothers during pregnancy . ref name nlm.nih.gov http www.nlm.nih.gov cgi jablonski syndrome cgi?term paramethadione syndrome&field name Multiple Congenital Anomaly Mental Retardation MCA MR Syndromes Retrieved January 2007 ref Fetal trimethadione syndrome is classified as a rare disease by the National Institute of Health s Office of Rare Diseases, ref http rarediseases.info.nih.gov asp diseases diseaseinfo.asp?ID 2462 Fetal trimethadione syndrome on the ORD website. Retrieved January 2007 ref meaning it affects less than 200,000 individuals in the United States . ref http rarediseases.info.nih.gov GARD Disease.aspx?PageID 4&diseaseID 2462 NIH s Office of Rare Diseases Retrieved January 2007 ref The fetal miscarriage loss rate while using trimethadione has been reported to be as high as 87 . ref http www.emedicine.com med topic3242.htm Teratology and Drug Use During Pregnancy Retrieved January 2007 ref Characteristics Fetal trimethadione syndrome is characterized by the following major symptoms as a result of the teratogenic characteristics of trimethadione. ref name nlm.nih.gov ref http archpedi.ama assn.org cgi content abstract 131 12 1389 The fetal trimethadione syndrome report of an additional family and further delineation of this syndrome Retrieved January 2007 ref Human cranium Cranial and human face facial abnormalities which include microcephaly , midfacial flattening, V shaped eyebrows and a short Human nose nose Cardiovascular abnormalities Absent kidney and ureter Meningocele , a birth defect of the spine Omphalocele , a birth defect where portions of the abdominal contents project into the umbilical cord A ... more details
Infobox Disease Name Coffin Siris syndrome Image Caption DiseasesDB 32018 ICD10 ICD9 ICDO OMIM 135900 MedlinePlus eMedicineSubj eMedicineTopic MeshID Coffin Siris Syndrome is a rare genetic disorder which causes developmental delays and absent fifth finger and toe nails. Synonyms include Dwarfism Onychodysplasia , Fifth Digit Syndrome , Mental Retardation with Hypoplastic 5th Fingernails and Toenails , and Short Stature Onychodysplasia . There were 31 reported cases as of 1991. ref name pmid1865473 cite journal author Levy P, Baraitser M title Coffin Siris syndrome journal J. Med. Genet. volume 28 issue 5 pages 338 41 year 1991 month May pmid 1865473 pmc 1016855 doi 10.1136 jmg.28.5.338 url http jmg.bmj.com cgi pmidlookup?view long&pmid 1865473 ref The numbers of occurrence since then has grown and is reported to be around 80. ref http www.metro.co.uk news 354388 twisted spine girl back playing football ref The differential includes Nicolaides Baraitser syndrome . ref name pmid19606471 cite journal author Sousa SB, Abdul Rahman OA, Bottani A, et al. title Nicolaides Baraitser syndrome Delineation of the phenotype journal Am. J. Med. Genet. A volume 149A issue 8 pages 1628 40 year 2009 month August pmid 19606471 doi 10.1002 ajmg.a.32956 ref Characteristics short fifth digits with hypoplastic or absent nails low birth weight feeding difficulties upon birth frequent respiratory infections during infancy hypotonia joint laxity delayed bone age moderate to severe learning difficulties global development delay microcephaly coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes Causes Autosomal recessive inheritance is the most likely, but sporadic mutation s and autosomal dominant cases may also occur. References reflist External links http www.orpha.net consor cgi bin OC Exp.php?Lng GB&Expert 1465 Coffin Siris syndrome on Orphanet http children.webmd.com Coffin Siris Syndrome Coffin Siris at WebMD WhoNamedIt synd 3426 http www.coffin siris ... more details
refimprove date April 2010 Infobox Disease Name CAMFAK syndrome Image Caption DiseasesDB 33725 ICD10 ICD9 ICDO OMIM 212540 MedlinePlus eMedicineSubj eMedicineTopic MeshID CAMFAK syndrome or CAMAK syndrome is an acronym used to describe a rare inherited neurology neurologic disease, characterized by peripheral and central demyelination of nerves, similar to that seen in Cockayne syndrome . ref name pmid2554729 cite journal author Talwar D, Smith SA title CAMFAK syndrome a demyelinating inherited disease similar to Cockayne syndrome journal Am. J. Med. Genet. volume 34 issue 2 pages 194 8 year 1989 month October pmid 2554729 doi 10.1002 ajmg.1320340212 url ref The name CAMFAK comes from the first letters of the characteristic findings of the disease cataract ca taract s, microcephaly m icrocephaly , failure to thrive fa ilure to thrive , and kyphoscoliosis k yphoscoliosis . ref name omim OMIM 212540 ref The disease may occur with or without failure to thrive and arthrogryposis . Characteristics Low birth weight and a bird like face may be the first signs. Severe intellectual deficit and death within the first decade are typical. Genetics Image Autorecessive.jpg thumb right CAMFAK syndrome has an autosomal recessive pattern of inheritance . CAMFAK syndrome is inherited in an autosomal recessive manner. ref name omim This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene one inherited from each parent are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both genetic carrier carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. References Reflist External links http www3.interscience.wiley.com cgi bin abstract 110519870 ABSTRACT?CRETRY 1&SRETRY 0 Wiley InterScience Journal RareDiseases 1060 CAMFAK syndrome http www.orpha.net static GB camfak syndrome.html Overview at Orphanet CNS disease ... more details
The World Circus Sideshow was a sideshow owned and operated by Professor Samuel Wagner from 1922 to 1941 on Surf Avenue, Coney Island , New York . Known as The Godfather of the Coney Island Freak Show , Wagner was a contemporary of other sideshow and circus legends, such as the Ringling Brothers and P.T. Barnum . He endured a legal fight against the famed Robert Moses . Moses, believing the age of sideshow entertainment was over, banned Balyhoo and Outside Lecturers , which eventually and effectively put the sideshows out of business. ref name freaklink http www.westland.net coneyisland articles freaks.htm Coney Freaks ref Notable acts Pip and Zip, Microcephaly pinheads Prince Randian , a human torso Jane Barnell Lady Olga , bearded lady Harry Bulson, The Spider Boy Baby Doll, Pulchritude Queen of the Avoirdupois , beautiful fat lady Forrest Layman, an armless wonder Flo Lambert, a contortionist Myrtle Corbin Warren Travis, World s Strongest Man Bonita Barlowe, Snake Enchantress Mr. X, Electric Chair Dynamo Gibbs Sisters, conjoined twins Major Mite, World s Smallest Individual Edna Price, neon tube swallower Lady Voltese, Electric Dynamo Stella, Homeliest Woman in the World Chief Woo Do and his strange people, Pseudo primitive Tribe Uncle Charlie Parcansas, Oldest man on Earth General Tom Thumb and Father, famous midgets Princess Marie, chimpanzee Sealo, the Pinniped seal boy Lady Gladys, ventriloquist and expose of the headless girl illusion Ramona, Europe s Miracle Sex Girl ref name freaklink ref This list has been compiled by Samuel Wagner s great grandchild and is subject to additions and removals. All the listed acts have been confirmed by the living grandchildren of Samuel Wagner, the children of Wagner s daughter Adelaide Wagner Weiser Howard Weiser, Virginia Einhorn, Joseph Weiser, and Stanley Weiser. ref A few acts were featured in the 1932 in film 1932 film , Freaks . gallery Deleted image removed Image Pip and Flip.jpg Pip & Zip Poster from The World Circ ... more details
Infobox Disease Name Micro syndrome Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 600118 MedlinePlus eMedicineSubj eMedicineTopic MeshID Micro Syndrome also known as WARBM, and Warburg Sjo Fledelius Syndrome, is a rare autosomal recessive genetic disorder characterized by microcephaly , microcornea , congenital cataract, mental retardation, optic atrophy, and hypogenitalism . ref WARBURG Micro Syndrome. http www.ncbi.nlm.nih.gov 10 Mar. 2008 http www.ncbi.nlm.nih.gov entrez dispomim.cgi?id 600118 . ref Genetics The rare cases that have been examined are often within families, or the people that have cases of Micro Syndrome have a mutation in their genes. It can be associated with RAB3GAP . ref name pmid20512159 cite journal author Morris Rosendahl DJ, Segel R, Born AP, et al. title New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish journal Eur. J. Hum. Genet. volume 18 issue 10 pages 1100 6 year 2010 month October pmid 20512159 doi 10.1038 ejhg.2010.79 ref Presentation and diagnosis Micro Syndrome can be identified in people several ways, one of the most common is ocular problems or other physical traits that don t appear natural. It is especially easy to identify Micro Syndrome in infants and in younger children. Mental retardation can seriously affect a patient in the way they think and move. So far according to studies all patients have had serious mental retardation, and hypotonia is found in all the patients during infancy. Treatment There is no specific treatment for Micro Syndrome, but there are ways to help the disorders, and illnesses that come with it. Many victims of Micro Syndrome need permanent assistance from their disorders and inabilities to move and support themselves. Seizures are not uncommon and patients should get therapy to help control them, and many patients also require wheelchairs to move, so an assistant would be needed at all times. ref Micro Syndrom ... more details
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