refimprove date April 2009 Infobox disease Name Microcephaly ICD10 ICD10 Q 02 q 00 ICD9 ICD9 742.1 ICDO ... Beetlejuice , a famous microcephalic Microcephaly is a neurodevelopmental disorder in which the circumference ... and sex. Microcephaly may be congenital or it may develop in the first few years of life. The disorder ... genes causes primary microcephaly. In general, life expectancy for individuals with microcephaly ... depending on the presence of associated abnormalities. Causes Microcephaly is a type of cephalic disorder . A genetic factor may play a role in causing some cases of microcephaly. Relations have been ... a relation has been found between schizophrenia , deletions of chromosomes and microcephaly. ref cite ... sqb.2009.74.025 ref Microencephaly Microcephaly means small head . Microencephaly means small ... is implied when discussing microcephaly. ref name WeaverBrandt1999 cite book author1 David D. Weaver ... 6044 7 page 104 ref Other Microcephaly can also be associated with other conditions that are only indirectly ... zero who had been pregnant at the time gave birth to children with microcephaly. ref http www.pcf.city.hiroshima.jp ... 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 Plus Ten ref Microcephaly prevalence was 7 out of a group of 11 pregnant women who held the distinction ...&dq microcephaly hiroshima&source bl&ots eqT78xHiCX&sig 9bckWb7x6IsnUC6lhvsa QTfZ04&hl en&ei OGtqTsG9NYTX8gOL3cwk&sa X&oi book result&ct result&resnum 3&ved 0CCoQ6AEwAg v onepage&q microcephaly 20hiroshima&f false Teratology in the Twentieth Century Plus Ten ref Microcephaly is the only proven malformation ... 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 Plus ... until later in life. Infant s with microcephaly are born with either a normal or reduced head ... more details
Microcephaly lymphoedema chorioretinal dysplasia MLCRD is a genetic condition associated with Small head Microcephaly Puffy feet Lymphoedema Eye problems Chorio retinal dysplasia ie changes in the retina In 1992, Feingold and Bartoshesky described two unrelated children with microcephaly, lymphoedema and chorioretinal dysplasia MIM 152950 as a distinct entity. Since then there have been further reports of children with these three features Angle et al 1994, Fryns et al 1995, Limwongse et al 1999, Casteels et al 2001 Children have also been seen with two of the above features Microcephaly and lymphoedema Microcephaly and chorioretinal dysplasia with or without mental retardation The former microcephaly and lymphoedema has been described as an autosomal dominant MIM 156590 or X linked trait , while the latter microcephaly and chorioretinal dysplasia has been described as autosomal dominant, autosomal recessive MIM 251270 or Mirhosseini Holmes Watson syndrome or X linked trait. The distinct facial feature include upslanting palpebral fissures, a broad nose with rounded tip, long philtrum with a thin upper lip, pointed chin and prominent ears Vasudevan 2005 References 1. Feingold M, Bartoshesky L 1992 Microcephaly, lymphoedema, and chorioretinal dysplasia a distinct syndrome? Am J Med Genet 43 1030 1031. 2. Angle B, Holgado S, Burton BK 1994 Microcephaly, lymphoedema, and chorioretinal dysplasia report of two additional cases. Am J Med Genet 53 99 101 3. Fryns JP, Smeets E, Van den Berghe H. 1995 On the nosology of the primary true microcephaly, chorioretinal dysplasia, lymphoedema association. Clin Genet 48 131 133 4.Limwongse C, Wyszynski RE, Dickerman LH, Robin NH 1999 Microcephaly ... Cleynenbreugel H, Demaerel P, De Tavernier F, Fryns JP 2001 . Autosomal dominant microcephaly lymphoedema ... . A genetic association between microcephaly and lymphoedema. Am J Med Genet 24 131 135. 7.Vasudevan ... Oliver W. J 2005 Microcephaly lymphoedema chorioretinal dysplasia three cases to delineate the facial ... more details
Halal syndrome is a rare disorder characterised by microcephaly , cleft palate , and variable other anomalies. References cite journal author Halal F title Dominantly inherited syndrome of microcephaly and cleft palate. journal Am J Med Genet volume 15 issue 1 pages 135 40 year 1983 pmid 6859112 doi 10.1002 ajmg.1320150118 last2 Opitz first2 John M. Category Congenital disorders disease stub ... more details
Mukamel syndrome is a cutaneous condition characterized by premature graying, lentigines, depigmented macules, microcephaly, and scoliosis. 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 See also Mulberry molar List of cutaneous conditions References reflist Dermatology stub Category Disturbances of human pigmentation ... more details
Refimprove date September 2010 Infobox disease Name Renpenning& 39 s syndrome Image Alt Caption DiseasesDB ICD10 ICD9 ICDO OMIM 309500 MedlinePlus eMedicineSubj eMedicineTopic MeshID GeneReviewsID GeneReviewsName Renpenning s syndrome is a neurodevelopmental disorder recognised in males Mental retardation intellectual disability , mild growth retardation with examples in the testes and Microcephaly head , and a somewhat short stature. The condition only affects males, starting at birth, and was first described by Hans Renpenning in 1963 after he documented these traits on many children in one family alone. It was characterized in 1962. ref name pmid13981686 cite journal author RENPENNING H, GERRARD JW, ZALESKI WA, TABATA T title Familial sex linked mental retardation journal Can Med Assoc J volume 87 issue pages 954 6 year 1962 month November pmid 13981686 pmc 1849750 doi url ref It can be associated with PQBP1 . ref name pmid17033686 cite journal author Mart nez Garay I, Tom s M, Oltra S, et al. title A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation journal Eur. J. Hum. Genet. volume 15 issue 1 pages 29 34 year 2007 month January pmid 17033686 doi 10.1038 sj.ejhg.5201717 ref Characteristics People with Renpenning s typically begin learning language at an ordinary pace, but by the age of 3 4 they experience a regression in mental and physical development, such as mild low muscle tone resulting in elongated faces and rapid loss in the normal growth of the head microcephaly . Small testes and short stature are also known to commonly occur. See also Lujan Fryns syndrome Fragile X syndrome Fragile x syndrome References Reflist Category Syndromes Category Mental retardation organizations Category X linked recessive disorders ... more details
Wiktionary pinhead A pinhead is the head of a Pin device pin . Pinhead may also refer to A telemark skiing telemark skier A juvenile Cricket insect cricket Pinhead A very dull or stupid person according to the Merriam Webster Online Dictionary Pinhead Hellraiser , a primary antagonist from the Hellraiser series of horror films A person with microcephaly , in freak show s promoted as human pinheads br See List of disability related terms with negative connotations Some of the well known people with this are Schlitzie , a circus performer who appears in the film Freaks Zip the Pinhead , a circus performer of the late 19th and early 20th century Beetlejuice entertainer , who appears with Howard Stern Zippy the Pinhead , a fictional comic strip character with said affliction Pinhead, a puppet in the Puppet Master film Puppets featured in film Puppet Master series of films. Pinhead Song Pinhead , a song by The Ramones on their album Leave Home the puppet sidekick of the star of the very early TV children s show, Foodini the Great A group of sideshow circus characters with microcephaly in the stage play The Elephant Man 28play 29 The Elephant Man Big Apple Tattoo s Amaury Pinhead Sanchez body piercer Please see wiktionary for slang definitions, which do not belong on a disambiguation page. disambig es Pinhead it Pinhead ... more details
Orphan date February 2009 Infobox Disease Name Mirhosseini Holmes Walton syndrome Image Caption DiseasesDB 32623 ICD10 ICD9 ICDO OMIM 268050 MedlinePlus eMedicineSubj eMedicineTopic MeshID Mirhosseini Holmes Walton syndrome is a syndrome which involves retinal degeneration , cataract , microcephaly , and mental retardation . It was first characterized in 1972. ref name pmid5046629 cite journal author Mirhosseini SA, Holmes LB, Walton DS title Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation journal J. Med. Genet. volume 9 issue 2 pages 193 6 year 1972 pmid 5046629 doi 10.1136 jmg.9.2.193 pmc 1469024 ref The locus is not yet determined. There is some evidence that it has the same genetic cause as Cohen syndrome . ref name pmid3096139 cite journal author Norio R, Raitta C title Are the Mirhosseini Holmes Walton syndrome and the Cohen syndrome identical? journal Am. J. Med. Genet. volume 25 issue 2 pages 397 8 year 1986 pmid 3096139 doi 10.1002 ajmg.1320250227 ref References references Category Diseases of the eye and adnexa disease stub ... more details
cases, in spite of the common symptom of microcephaly, the degree of mental retardation varies ... with low levels of IgG, a condition found in Dubowitz patients. ref name OMIM MicrocephalyMicrocephaly ... of the features associated with microcephaly. ref name microcephaly NINDS microcephalyMicrocephaly ... http www.healthscout.com ency 68 369 main.html TreatmentofMicrocephaly title Microcephaly Symptoms, Treatment and Prevention format work The HealthCentralNetwork accessdate ref Microcephaly has a wide ... effects. ref name microcephaly Relation to SLOS Another lead that researchers have found in their quest ... more details
Orphan date February 2009 Unreferenced date September 2008 Tomingal like peptide is a newly discovered protein derivative. Currently, this protein is linked to the following symptoms microcephaly micro genitalia gynecomastia excessive prolactin release and regression of the mullerian duct during development. Tomingal like peptide has been confirmed to be found on chromosome 6, near the prolactin gene location, with a similar promoter. Excessive prolactin leads to gynecomastia, as well as microgenitalia. Tomingal like peptide also leads to delayed or perturbed puberty and development including microgenitalia, Mullerian duct regression, and Wolfian duct regression . DEFAULTSORT Tomingal Like Peptide Category Peptides ... more details
Infobox Disease Name Raine syndrome Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 259775 MedlinePlus eMedicineSubj eMedicineTopic MeshID Raine syndrome RNS , also called osteosclerotic bone dysplasia , is a rare autosomal recessive congenital disorder characterized by craniofacial anomalies including microcephaly , exophthalmos , midface hypoplasia, cleft palate , gum hypertrophy and generalized osteosclerosis on radiography. It is usually lethal within a few hours after birth. It was first characterized in 1989. ref name pmid2614802 cite journal author Raine J, Winter RM, Davey A, Tucker SM title Unknown syndrome microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis journal J. Med. Genet. volume 26 issue 12 pages 786 788 year 1989 month December pmid 2614802 pmc 1015765 doi 10.1136 jmg.26.12.786 url http jmg.bmj.com cgi pmidlookup?view long&pmid 2614802 ref It is associated with deficiencies in FAM20C . ref name pmid17924334 cite journal author Simpson MA title Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia Raine syndrome , highlighting a crucial molecule in bone development journal Am. J. Hum. Genet. volume 81 issue 5 pages 906 912 year 2007 month November pmid 17924334 pmc 2265657 doi 10.1086 522240 url http linkinghub.elsevier.com retrieve pii S0002 9297 07 63868 3 author separator , author2 Hsu R author3 Keir LS display authors 3 last4 Hao first4 J. last5 Sivapalan first5 G. last6 Ernst first6 L.M. last7 Zackai first7 E.H. last8 Al Gazali first8 L.I. last9 Hulskamp first9 G. ref Image autorecessive.svg thumb right Raine syndrome has an autosomal recessive pattern of inheritance . References reflist Osteochondrodysplasia Category Congenital disorders of musculoskeletal system Category Autosomal recessive disorders Category Rare diseases Category Syndromes disease stub Scleroprotein disease ... more details
Infobox Disease Name Feingold syndrome Image Caption DiseasesDB 33706 ICD10 ICD9 ICDO OMIM 164280 MedlinePlus eMedicineSubj eMedicineTopic MeshID Feingold syndrome also called oculodigitoesophagoduodenal syndrome is a rare autosomal dominant hereditary disorder . It is named after Murray Feingold , an American physician who first described the syndrome in 1975. Until 2003, at least 79 patients have been reported worldwide. ref cite journal author T sz s A, Meijer R, Scheffer H, et al. title Expanding the clinical spectrum of MYCN related Feingold syndrome journal Am. J. Med. Genet. A volume 140 issue 20 pages 2254 6 year 2006 month October pmid 16906565 doi 10.1002 ajmg.a.31407 ref Characteristics Feingold syndrome is marked by various combinations of microcephaly , limb malformations , esophagus esophageal and duodenum duodenal atresia s, and sometimes learning disability or mental retardation . ref cite journal author Celli J, van Bokhoven H, Brunner HG title Feingold syndrome clinical review and genetic mapping journal Am. J. Med. Genet. A volume 122A issue 4 pages 294 300 year 2003 month November pmid 14518066 doi 10.1002 ajmg.a.20471 ref Genetics and cause Image Autosomal dominant en.svg thumb right Feingold Syndrome is inherited in an autosomal dominant fashion. Feingold syndrome is caused by mutations in the N Myc neuroblastoma derived V myc avian myelocytomatosis viral related oncogene MYCN which is located on the short arm of chromosome 2 2p24.1 . Diagnosis and treatment The diagnosis is based on the following clinical findings microcephaly clinodactyly and shortness of index and little fingers syndactyly of 2nd & 3rd and 4th & 5th toe short palpebrae palpebral fissures esophageal and or duodenal atresia References reflist External links http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part feingold GeneReview NIH UW entry on Feingold syndrome Transcription factor coregulator deficiencies DEFAULTSORT Feingold Syndrome Category Autosomal dominant disord ... more details
Lenz microphthalmia syndrome or LMS is a very rare inherited disorder characterized by abnormal smallness of one or both eyes microphthalmos sometimes with droopy eyelids blepharoptosis , resulting in visual impairment or blindness. Eye problems may include coloboma , microcornea, and glaucoma . Some affected infants may have complete absence of the eyes anophthalmia . Most affected infants have developmental delay and mental retardation , ranging from mild to severe. Other physical abnormalities associated with this disorder can include an unusually small head microcephaly , and malformations of the teeth, ears, fingers or toes, skeleton, and genitourinary system. The range and severity of findings vary from case to case. Formal diagnosis criteria do not exist. Lenz microphthalmia syndrome is inherited as an X linked recessive genetic trait and is fully expressed in males only. Females who carry one copy of the disease gene heterozygote s may exhibit some of the symptoms associated with the disorder, such as an abnormally small head microcephaly , short stature, or malformations of the fingers or toes. Molecular genetic testing of BCOR MCOPS2 locus , the only gene known to be associated with Lenz microphthalmia syndrome, is available on a clinical basis. One additional locus on the X chromosome MCOPS1 is known to be associated with LMS. Lenz microphthalmia syndrome is also known as LMS, Lenz syndrome, Lenz dysplasia, Lenz dysmorphogenetic syndrome, or microphthalmia with multiple associated anomalies MAA OMIM 309800 . It is named after Widukind Lenz , a German geneticist and dysmorphologist. A somewhat similar X linked syndrome of microphthalmia, called Oculofaciocardiodental syndrome OFCD is associated with mutations in BCOR. OFCD syndrome is inherited in an X linked dominant pattern with male lethality. References http www.ncbi.nlm.nih.gov books NBK1521 Category Syndromes ... more details
Cernunnos de ciency is a form of immunodeficiency . ref name pmid21721379 cite journal author Turul T, Tezcan I, Sanal O title Cernunnos deficiency a case report journal J Investig Allergol Clin Immunol volume 21 issue 4 pages 313 6 year 2011 pmid 21721379 doi url ref ref name pmid16439204 cite journal author Buck D, Malivert L, de Chasseval R, et al. title Cernunnos, a novel nonhomologous end joining factor, is mutated in human immunodeficiency with microcephaly journal Cell volume 124 issue 2 pages 287 99 year 2006 month January pmid 16439204 doi 10.1016 j.cell.2005.12.030 url http linkinghub.elsevier.com retrieve pii S0092 8674 06 00002 X ref See also Cernunnos References reflist medicine stub Category Combined T and B cell immunode ciencies ... more details
Infobox disease Name Stimmler syndrome Image Alt Caption DiseasesDB ICD10 none ICD9 none ICDO OMIM 202900 MedlinePlus eMedicineSubj eMedicineTopic MeshID GeneReviewsID GeneReviewsName Stimmler syndrome is a rare autosomal recessive ref name orphanet cite web title Stimmler syndrome publisher Orphanet accessdate 2011 09 14 url http www.orpha.net consor cgi bin OC Exp.php?lng EN&Expert 3199 ref congenital disorder first described by Stimmler et al. in 1970. ref name stimmler cite journal author Stimmler L, Jensen N, Toseland P title Alaninuria, associated with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus in two sisters journal Archives of Disease in Childhood volume 45 issue 243 pages 682 5 year 1970 month October pmid 5477682 pmc 1647488 doi url ref It is characterized by dwarfism, diabetes mellitus diabetes , a small head, and high levels of alanine in the urine. ref cite web title Stimmler syndrome Introduction publisher Right Diagnosis accessdate 2011 09 14 url http www.rightdiagnosis.com s stimmler syndrome intro.htm ref Symptoms Symptoms for the disease include microcephaly , a low birth weight, dwarfism, small teeth, and diabetes. The symptoms of Stimmler syndrome are closely related to a disease studied by Haworth et al. in 1967 ref cite journal author Haworth JC, Ford JD, Younoszai MK title Familial chronic acidosis due to an error in lactate and pyruvate metabolism journal Canadian Medical Association Journal volume 97 issue 13 pages 773 9 year 1967 month September pmid 6050895 pmc 1923319 doi url ref as well as Leigh subacute necrotizing encephalopathy with lactic acidosis ref name omim cite web publisher Online Medical Inheritance in Man title ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS date 1995 11 12 accessdate 2011 09 14 url http omim.org entry 202900 ref Pathophysiology Stimmler syndrome is an autosomal recessive genetic disorder whose symptoms appear before birth or during infancy. ref name orph ... more details
Zadik Barak Levin Syndrome ZBLS is a congenital disorder in humans. Presenting conditions include primary hypothyroidism , cleft palate , hypodontia , and ectoderm al dysplasia . It is the result of an embryo nic defect in the mesoderm al ectodermal midline development. Signs and symptoms anodontia oligodontia &mdash no teeth or fewer teeth than normal cleft palate depressed nasal bridge dry skin ectopic agenesis hypoplasia hypoplastic thyroid epibulbar dermoid cyst dermoid frontal bossing hypertelorism hypothyroidy lordosis macroglossia microcephaly micrognatia retrognatia &mdash small or recessed jaw s polyhydramnios short stature dwarfism sparse absent scalp hair generalized squint paresis of human eye ocular muscles umbilical hernia References reflist Zadik, Z. and Y. Barak , S. Levin , Z. Josephberg , J. Lustmann , J. Chemke . Dermoid cysts, hyperthyroidism, cleft palate, and hypodontia, J. Clin. Dysmorphol. , 1983 Winter, 1 4 24 7. http orphanet.infobiogen.fr consor cgi bin OC Exp.php?Lng GB&Expert 2263 Zadik Barak Levin syndrome , About rare diseases , Orphanet. disease stub Category Congenital disorders Zadik Barak Levin syndrome Category Rare diseases ... more details
Orphan date February 2009 A cerebral rubicon in paleontology is the minimum cranial capacity required for a specimen to be classified as a certain paleospecies or genus. The term is mostly used in reference to human evolution. The Scottish anthropologist Sir Arthur Keith set the limit at 750 cc for the genus Homo . The minimum cranial capacity for the species Homo sapiens is generally set at 900cc. ref http www.amren.com ar 1996 02 The Origin of Races ref One of the reasons for the proposal to exclude Homo habilis from the genus Homo , and renaming it as Australopithecus habilis is the small capacity of their cranium 363cc 600 cc . Origin The term is most likely a reference to the Rubicon river, which in the time of the Roman Empire marked the boarded between Gaul Cisapline Gaul and Italy proper. Crossing the river with an army, as Julius Caesar did in 49 B.C., was illegal by Roman law and is commonly seen as the point of no return for Caesar s revolution. As such, a rubicon can be used idiom atically as any strict dividing line or point of no return. See also Microcephaly Notes reflist References http www.custance.org Library Volume4 Part V chapter2.html The Human Brain Its Size and Its Complexity cite journal author Ashley Montagu title The Cerebral Rubicon Brain Size and the Achievement of Hominid Status journal American Anthropologist month April year 1961 volume 63 issue 2 pages 377 378 doi 10.1525 aa.1961.63.2.02a00100 jstor 667535 Category Anthropology ... more details
Orphan date April 2010 Monosomy is a form of aneuploidy with the presence of only one chromosome instead of the typical two in humans from a pair, which affects chromosome 14. Fetuses with monosomy 14 are not viable. ref cite book author Ginsburg, David Gelehrter, Thomas D. Collins, Francis S. title Principles of medical genetics publisher Williams & Wilkins location Baltimore year 1998 pages 169 isbn 0 683 03445 6 oclc doi accessdate ref Only Mosaic genetics mosaic cases exist and these usually present with severe symptoms such as mental retardation , ocular colobomata , microcephaly , and seizures . ref cite journal author McConnell V, Derham R, McManus D, Morrison PJ title Mosaic monosomy 14 clinical features and recognizable facies journal Clin. Dysmorphol. volume 13 issue 3 pages 155 60 year 2004 month July pmid 15194951 doi url ref ref cite journal author Cant ES, Thomas IT, Frias JL title Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR MCA syndrome and abnormal pigmentation journal Clin. Genet. volume 36 issue 3 pages 189 95 year 1989 month September pmid 2676269 doi url ref References Reflist Category Autosomal monosomies and deletions ... more details
Alopecia contractures dwarfism mental retardation or ACD mental retardation syndrome is a developemental disorder which causes mainly baldness and dwarfism in combination with intellectual disability Human skeleton skeletal anomalies, caries and Myopia nearsightedness are also typical. The ACD mental retardation syndrome was first described in 1980 by List of geneticists Albert Schinzel and only few cases have since been identified in the world. At the time Dr. Schinzel made no conclusion of the hereditary pattern of this syndrome but similarities between cases reported by year 2000 seem to suggest Autosome autosomal or Chromosomes x linked Dominance recessive inheritance or possibly a Dominance dominant mutation caused by Mosaic genetics mosaicism as causes of this syndrome. ref Miroslav Dumi , Marijana Cvitanovic, Jasenka Ille, Kristina Potocki Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies, AJMG American Journal of Medical Genetics, Volume 93, 3 July 2000 Abstract on Wiley Online Library http onlinelibrary.wiley.com doi 10.1002 1096 8628 20000703 93 1 3C47 AID AJMG8 3E3.0.CO 2 A abstact ref References Johns Hopkins University http www.ncbi.nlm.nih.gov omim 203550 OMIM, Online Mendelian Inheritance in Man, MIM ID 203550 Reflist Category Syndromes Category Mental retardation medicine stub fi ACD kehitysvammaoireyhtym ... more details
A list of disease s in the English Wikipedia. DiseasesTOC X X chromosome, duplication Xq13 1 q21 1 X chromosome, monosomy Xp22 pter X chromosome, monosomy Xq28 X chromosome, trisomy Xp3 X chromosome, trisomy Xpter Xq13 X chromosome, trisomy Xq X chromosome, trisomy Xq25 X fragile site folic acid type Xa Xk Xanthic urolithiasis Xanthine oxydase deficiency Xanthinuria Xanthomatosis cerebrotendinous Xerocytosis, hereditary Xeroderma pigmentosum, type 1 Xeroderma pigmentosum, type 2 Xeroderma pigmentosum, type 3 Xeroderma pigmentosum, type 5 Xeroderma pigmentosum, type 6 Xeroderma pigmentosum, type 7 Xeroderma pigmentosum, variant type Xeroderma pigmentosum Xeroderma talipes enamel defects Xk aprosencephaly Xerophthalmia Xl X linked adrenal hypoplasia congenita X linked adrenoleukodystropy X linked alpha thalassemia mental retardation syndrome ATR X X linked dominant X linked ichthyosis X linked juvenile retinoschisis X linked juvenile retinoschisis X linked lymphoproliferative syndrome X linked mental retardation and macroorchidism X linked mental retardation associated with marXq2 X linked mental retardation Brooks type X linked mental retardation craniofacial abnormal microcephaly club X linked mental retardation De silva type X linked mental retardation Hamel type X linked mental retardation type Gustavson X linked mental retardation type Martinez X linked mental retardation type Raynaud X linked mental retardation type Schutz X linked mental retardation type Snyder X linked mental retardation type Wittner X linked mental retardation hypotonia X linked severe combined immunodeficiency X linked trait Xx Xy XX male syndrome XY Female XY gonadal agenesis syndrome DEFAULTSORT List Of Diseases X Category Lists of diseases X ... more details
Orphan date December 2010 Infobox disease Name Bangstad syndrome Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 210740 MedlinePlus eMedicineSubj eMedicineTopic MeshID Bangstad syndrome is a severe, inherited congenital disorder associated with abnormalities of the cell membrane . It was characterized in 1989. ref name pmid2662702 cite journal author Bangstad HJ title Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency. A new syndrome journal Acta Paediatr Scand volume 78 issue 3 pages 488 93 year 1989 month May pmid 2662702 doi 10.1111 j.1651 2227.1989.tb11119.x url author separator , author2 Beck Nielsen H author3 Hother Nielsen O display authors 3 last4 Nystad first4 ROY last5 Trygstad first5 Olav last6 Pedersen first6 Oluf last7 Aagenaes first7 ystein ref Presentation Presenting at birth, ref name BissonnetteLuginbuehl2006 cite book author1 Bruno Bissonnette author2 Igor Luginbuehl author3 Bernard J. Dalens title Syndromes rapid recognition and perioperative implications url http books.google.com books?id uRR1MYa w5wC&pg PT92 accessdate 29 June 2010 date 20 July 2006 publisher McGraw Hill Professional isbn 9780071354554 pages 92 ref features of the disorder include moderately severe IUGR , microcephaly , craniosynostosis , moderately severe post uterine growth retardation , deafness, deep set eyes, cryptorchidism , truncal obesity and acanthosis nigricans , small teeth, prognathism , dislocated radial heads without generalized skeletal dysplasia, however, tall vertebrae, moderate mental retardation, hypothyroidism , insulin resistance , hypoparathyroidism . References reflist Category Congenital disorders Category Genetic disorders with OMIM but no gene Category Syndromes disease stub ... more details
Orphan date December 2010 Infobox disease Name Monosomy 9p Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 158170 MedlinePlus eMedicineSubj eMedicineTopic MeshID Monosomy 9p also known as Alfi s Syndrome or simply 9P is a rare chromosomal disorder in which there is deletion monosomy of a portion of chromosome 9 human chromosome 9 . Symptoms include microgenitalia, mental retardation with microcephaly and dysmorphic features. The disease was described in 1985 when Saint John, New Brunswick resident Stefan Guimond was diagnosed. Because of his cooperation with doctors, there has been significant advances in the management of this syndrome and the likelihood of surviving has risen to 74 from 36 . Stefan did not survive, but a statue was erected at the Saint John Regional Hospital on October 7, 1989 in his memory. The location has recently been narrowed to 9p22.2 p23. ref name pmid16419130 cite journal author Kawara H title Narrowing candidate region for monosomy 9p syndrome to a 4.7 Mb segment at 9p22.2 p23 journal Am. J. Med. Genet. A volume 140 issue 4 pages 373 7 year 2006 month February pmid 16419130 doi 10.1002 ajmg.a.31094 author separator , author2 Yamamoto T author3 Harada N display authors 3 last4 Yoshiura first4 Koh Ichiro last5 Niikawa first5 Norio last6 Nishimura first6 Akira last7 Mizuguchi first7 Takeshi last8 Matsumoto first8 Naomichi ref References reflist External links http www.9pminus.org Support group Chromosomal abnormalities Discovered by Omar Alfi. Category Autosomal monosomies and deletions disease stub ... more details
Infobox Disease Name PAGENAME Image Phenytoin structure.svg Caption Phenytoin DiseasesDB 33179 ICD10 ICD10 Q 86 1 q 80 ICD9 ICD9 760.77 ICDO OMIM 132810 MedlinePlus eMedicineSubj eMedicineTopic MeshID Fetal hydantoin syndrome , also called fetal dilantin syndrome is a group of defects caused to the developing fetus by exposure to the teratogenic effects of phenytoin . Dilantin is the brand name of the drug phenytoin sodium in the United States , commonly used in the treatment of epilepsy . It may also be called congenital hydantoin syndrome , ref name pmid18479711 cite journal author Nicolai J, Vles JS, Aldenkamp AP title Neurodevelopmental delay in children exposed to antiepileptic drugs in utero a critical review directed at structural study bias journal J. Neurol. Sci. volume 271 issue 1 2 pages 1 14 year 2008 month August pmid 18479711 doi 10.1016 j.jns.2008.03.004 url http linkinghub.elsevier.com retrieve pii S0022 510X 08 00139 1 ref Fetal Hydantoin Syndrome , Dilantin Embryopathy , or Phenytoin Embryopathy . Association with EPHX1 has been suggested. ref OMIM 132810 ref Prevalence and presentation About one third of children whose mothers are taking this drug during pregnancy typically have children who have Small for gestational age intrauterine growth restriction with microcephaly and develop minor dysmorphic craniofacial features and limb defects including hypoplastic nails and distal phalanges birth defects . A smaller population will have growth problems and developmental delay , or mental retardation . Rare side effects include methemoglobinemia. Heart defect s Citation needed date April 2010 and cleft lip ref name pmid4644176 cite journal author Easton JD title Potential hazards of hydantoin use journal Ann. Intern. Med. volume 77 issue 6 pages 998 9 year 1972 month December pmid 4644176 doi url http www.annals.org content 77 6 998.extract ref may also be featured. References Reflist Congenital malformation due to exogenous toxicity Category Congenital ... more details
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