refimprove date April 2009 Infobox disease Name Microcephaly ICD10 ICD10 Q 02 q 00 ICD9 ICD9 742.1 ICDO Image IMGP2147.JPG Caption Boy with microcephaly surrounded by his classmates OMIM 251200 OMIM mult MedlinePlus eMedicineSubj eMedicineTopic DiseasesDB 22629 MeshID D008831 Removing copyrighted image with missing or inapplicable fair use rationale use Image BeetlejuiceEntertainer.jpg right thumb frame Lester Green aka Beetlejuice entertainer Beetlejuice , a famous microcephalic Microcephaly is a neurodevelopmental ... s smaller than average for the person s age and sex. Microcephaly may be congenital or it may develop ... copies of a loss of function mutation in one of the microcephalin genes causes primary microcephaly. In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal .... Causes Microcephaly is a type of cephalic disorder . A genetic factor may play a role in causing some cases of microcephaly. Relations have been found between autism , duplications of chromosomes ... of chromosomes and microcephaly. ref http www.pnas.org content 107 suppl.1 1736.full Crespi .... In ICD 10 , Microcephaly is classified under congenital malformations of the nervous system ... system . Other Microcephaly can also be associated with other conditions that are only ... pregnant at the time gave birth to children with microcephaly. ref http www.pcf.city.hiroshima.jp ..., but disturbances in motor functions may not appear until later in life. Infant s with microcephaly ... there is no specific treatment for microcephaly. Treatment is symptomatic and supportive. Microcephaly ... are Zip the Pinhead although he may not have had microcephaly ref http thehumanmarvels.com blog ?p 36 ... performer William Henry Johnson is commonly associated with microcephaly, although he may not have ... External links http www.ninds.nih.gov disorders microcephaly microcephaly.htm NINDS Microcephaly Information Page http www.microcephaly.co.uk Microcephaly Support Group http www.telegraph.co.uk core ... 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
Wiktionary pinhead A pinhead is the head of a Pin device pin . Pinhead may also refer to Pinhead A very dull or stupid person according to the Merriam Webster Online Dictionary 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 Hellraiser , a primary antagonist from the Hellraiser series of horror films 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 A telemark skiing telemark skier A juvenile Cricket insect cricket 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
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
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
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 ... to many of the features associated with microcephaly. ref name microcephaly NINDS microcephalyMicrocephaly ... url http www.healthscout.com ency 68 369 main.html TreatmentofMicrocephaly title Microcephaly Symptoms, Treatment and Prevention format work The HealthCentralNetwork accessdate ref Microcephaly has ... side effects. ref name microcephaly Relation to SLOS Another lead that researchers have found in their quest ... 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 8 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, Hsu R, Keir LS, et al 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 12 year 2007 month November pmid 17924334 pmc 2265657 doi 10.1086 522240 url http linkinghub.elsevier.com retrieve pii S0002 9297 07 63868 3 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 Teszas et al. 2006 Expanding the clinical spectrum of MYCN related Feingold syndrome Am J Med Genet Part A 140A 2254 2256 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 Celli et al. 2003 Feingold syndrome clinical review and genetic mapping Am J Med Genet Part A 122 4 294 300 ref . Genetics and cause Image Autodominant.jpg 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 2 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 disorders Category Syndromes Category Transcription factor deficiencies pl Zesp Feingolda ... more details
FixBunching beg 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 FixBunching mid 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 FixBunching end Microcephalin MCPH1 is one of six gene s causing primary microcephaly ... similarly studied microcephaly gene, ASPM gene ASPM . ref name AutoR3 5 ref name AutoR3 6 Structure ... members In addition to MCPH1. the other five family members are valign top protein Name microcephaly ... protein Name CDK5RAP2 microcephaly, br primary autosomal recessive 3 caption image width HGNCid ... 9 Arm q Band 33.3 LocusSupplementaryData protein Name microcephaly, br primary autosomal recessive ... microcephaly, br primary autosomal recessive 5 caption image width HGNCid 19048 Symbol ASPM gene ASPM ... 31 LocusSupplementaryData protein Name CENPJ microcephaly, br primary autosomal recessive 6 caption ... PDB ECnumber Chromosome 13 Arm q Band 12.2 LocusSupplementaryData The microcephaly related loci MCPH ... Recessive Microcephaly MCPH1 Maps to Chromosome 8p22 pter journal Am. J. Hum. Genet. volume 63 ... NYAS podcasts. http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part microcephaly GeneReviews NCBI NIH UW entry on Primary Autosomal Recessive Microcephaly http www.medterms.com script main ... more details
Colpocephaly refers to an abnormal appearance of the brain in which there is asymmetric dilatation of its lateral ventricle occipital horn s, but with normal caliber frontal horns. ref http www.springerlink.com content 75h8x7646582843p ref It is typically associated with microcephaly and developmental delay. Specific symptoms include decreased IQ , visual impairment, locomotor abnormalities, muscle spasms, and seizure s. Colpocephaly is a nonspecific finding and can be associated with multiple neurologic syndromes, including agenesis of the corpus callosum and Chiari malformation . It is thought to be related to an intrauterine disturbance that occurs between the second and sixth months of pregnancy. The finding may be indirectly suggested on ultrasound by the so called lemon sign , which occurs due to depression of the calvarium at the bilateral frontal suture lines, giving the calvarium the appearance of a lemon. ref http www.sonoworld.com fetus page.aspx?id 135 ref ref http www.cchs.net pediatricradiology imagegallery default.asp ref Specific treatment depends on associated symptoms and the degree of dysfunction. Anticonvulsant medications can be given to prevent seizure complications, and physical therapy is used to prevent contractures shrinkage or shortening of muscles in patients that have limited mobility. The prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development. Some children may benefit from special education . References references External links http www.thefetus.net page.php?id 100 TheFetus.net Category Congenital disorders Category Neurology es Colpocefalia pt Colpocefalia ... 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 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 . Tragically, 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, Yamamoto T, Harada N, et al. 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 ref References reflist External links http www.9pminus.org Support group Chromosomal abnormalities Discovered by Omar Alfi. Category Congenital disorders disease stub ... 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 Chromosomal abnormalities ... 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
on Amish Lethal Microcephaly http www.ncbi.nlm.nih.gov omim 220500,606521,607196,606521,607196 OMIM entries on Amish Lethal Microcephaly membrane protein stub Membrane transport proteins Category Solute ... 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 protruding lobes, deep and widely set eyes, open mouth, wide nasal bridge and a shortened philtrum . Causes The disorder is an autosomal dominant disorder resulting from new mutation s or deletions of the ZFHX1B SMADIP1 gene on chromosome 2q22. However, some of those aff ... 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 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, Beck Nielsen H, Hother Nielsen O, et al. 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 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
Syndrome are noted to have microcephaly . Many also suffer from scoliosis , hip dislocation ... in some cases of primary isolated microcephaly. Osteodysplastic Primordial Dwarfism, Type I ODPDI .... Like those with Seckel Syndrome they also often have microcephaly . Microcephalic osteodysplastic ..., scoliosis , and delayed bone age as well as microcephaly . They will not reach the size of an average ... 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 Dilantin is the brand name of the drug phenytoin sodium in the United States , commonly used in the treatment of epilepsy . The entire group of defects caused by the drug s teratogenicity is called Fetal Dilantin Syndrome . 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 disorders Category Syndromes pl P odowy zesp hydantoinowy ... more details
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