genetic syndrome (multisystem disorder)

genetic disorder with multisystemic manifestation

Specific

3M syndrome 3MC syndrome 47, XYY syndrome Aarskog-Scott syndrome; faciogenital dysplasia; faciodigitogenital syndrome ABCD syndrome achalasia-addisonianism-alacrima syndrome (AAA syndrome, triple-A syndrome, Allgrove syndrome) acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) acrocallosal syndrome acrocephalopolysyndactyly acrocephalosyndactyly acromicric dysplasia Adams-Oliver syndrome (type 2) adrenocortical insufficiency without ovarian defect agenesis of the corpus callosum with abnormal genitalia (ACCAG) agenesis of the corpus callosum with mental retardation, ocular coloboma & micrognathia agenesis of the corpus callosum with peripheral neuropathy (ACCPN) Aicardi-Goutieres syndrome; pseudo-TORCH syndrome; Cree encephalitis Al-Raqad syndrome Alagille syndrome (arteriohepatic dysplasia) Alpers-Huttenlocher syndrome; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis alpha-1 antitrypsin deficiency alpha-thalassemia myelodysplasia syndrome Alport syndrome with mental retardation midface hypoplasia & elliptocytosis Alstrom syndrome Amish infantile epilepsy syndrome AMME complex Angelman syndrome (happy puppet syndrome) ankyloblepharon-ectodermal defects-cleft lip/palate (AEC syndrome) Antley-Bixler syndrome aromatase excess syndrome arterial tortuosity syndrome ARTS syndrome; fatal ataxia X-linked with deafness & loss of vision ataxia telangiectasia-like disorder (ATLD) atelosteogenesis type II (neonatal osseous dysplasia I) Athabaskan brainstem dysgenesis syndrome (Navajo brainstem syndrome) autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED); autoimmune polyglandular syndrome type 1; Whitaker's syndrome autosomal dominant aplasia of lacrimal & salivary glands (ALSG) Axenfeld-Rieger syndrome (Axenfeld anomaly) Bamforth-Lazarus syndrome Barakat syndrome (hypoparathyroidism with sensorineural deafness & renal dysplasia) Bardet-Biedl syndrome bare lymphocyte syndrome Bart-Pumphrey syndrome Bartter syndrome Beare-Stevenson cutis gyrata syndrome (BSCGS) Birk Barel syndrome Birt-Hogg-Dube syndrome Bjoernstad syndrome blepharophimosis syndrome; blepharophimosis, ptosis, & epicanthus inversus syndrome (BPES) Borjeson-Forssman-Lehmann syndrome Bosley-Salih-Alorainy syndrome brachydactyly-syndactyly syndrome branchiooculofacial syndrome; lip pseudocleft-hemangiomatous branchial cyst syndrome branchiootic syndrome brittle cornea syndrome bronchio-oto-renal syndrome Brown-Marie syndrome Brown-Vialetto-Van Laere syndrome Bruck syndrome; osteogenesis imperfecta with congenital joint contractures Brunner syndrome Buschke-Ollendorff syndrome; dermatofibrosis, disseminated with osteopoikilosis; osteopathia consensans disseminata C syndrome (Opitz trigonocephaly syndrome) C-like syndrome (Opitz trigonocephaly-like syndrome) campomelic dysplasia camptodactyly tall stature & hearing loss syndrome (CATSHL syndrome) camptodactyly-arthropathy-coxa vara-pericarditis syndrome (Jacobs syndrome) Cantu syndrome; hypertrichotic osteochondrodysplasia cardiofaciocutaneous syndrome (CFC syndrome) cat-eye syndrome cataract-microcornea syndrome CATCH22 syndrome CEDNIK syndrome cerebral palsy cerebro-oculo-facio-skeletal syndrome (COFS); Pena Shokeir 2 syndrome; Cockayne syndrome type 2 cerebrofrontofacial syndrome Char syndrome Chediak-Higashi syndrome cherubism chromosomal instability syndrome chromosome 1q21.1 deletion syndrome chromosome 1q21.1 duplication syndrome chromosome deletion syndrome ciliary dyskinesia; immotile cilia syndrome (Kartagener's syndrome) CK syndrome CLOVES syndrome Coffin-Lowry syndrome Coffin-Siris syndrome; fifth digit syndrome Cohen syndrome; Pepper syndrome; cerebral obesity ocular skeletal syndrome cold-induced sweating syndrome (CISS) congenital cataracts facial dysmorphism & neuropathy syndrome congenital central hypoventilation syndrome; congenital failure of autonomic control; congenital Ondine curse (CCHS) congenital diaphragmatic hernia congenital nephrotic syndrome congenital vertical talus; rocker-bottom foot deformity; congenital convex pes valgus Conradi-Hunermann syndrome (chondrodysplasia punctata-2, Happle syndrome) corneal dystrophy & perceptive deafness; corneal dystrophy & sensorineural deafness; Harboyan syndrome cortical dysplasia-focal epilepsy syndrome (CDFE syndrome) Costello syndrome (faciocutaneoskeletal syndrome) craniofacial-deafness-hand syndrome craniofrontonasal syndrome (craniofrontonasal dysplasia) craniolenticulosutural dysplasia craniometaphyseal dysplasia craniosynostosis with radial defects (Baller-Gerold syndrome) cri-du-chat (cry of the cat, chromosomal 5p deletion) syndrome cryptophthalmos syndrome (Fraser syndrome) Currarino syndrome cutis laxa autosomal recessive type 3A; mental retardation-joint hypermobility-skin laxity deafness with labyrinthine aplasia, microtia & microdontia (LAMM) deafness-infertility syndrome Degos-Touraine syndrome; malignant atrophic papulosis desmosterolosis diabetes & deafness, maternally inherited; Ballinger-Wallace syndrome DiGeorge syndrome; velocardiofacial syndrome; pharyngeal pouch syndrome dilated cardiomyopathy with woolly hair & keratoderma; Carvajal syndrome; palmoplantar keratoderma with left ventricular cardiomyopathy & woolly hair (DCWHK) distal renal tubular acidosis with deafness dominant optic atrophy plus syndrome Donnai-Barrow syndrome; faciooculoacousticorenal syndrome (FOAR syndrome) Down's syndrome dsytonia deafness syndrome; Mohr-Traneberg syndrome; deafness-dystonia-optic atrophy syndrome; X-linked progressive deafness type 1 Du pan syndrome (fibular hypoplasia & complex brachydactyly) Duane retraction syndrome Duane-radial ray syndrome (Okihiro syndrome) Dyggve-Melchior-Clausen syndrome ectodermal dysplasia Rapp-Hodgkin type; Rapp-Hodgkin syndrome; anhidrotic ectodermal dysplasia with cleft lip/palate (EDRH) ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome (EEC syndrome) Eiken syndrome; Eiken skeletal dysplasia; bone modeling defect of hands & feet Elejalde syndrome; neuroectodermal melanolysosomal disease Ellis-van Creveld syndrome (chondroectodermal dysplasia) EMPF encephalopathy; encephalopathy, lethal, due to defective mitochondrial & peroxisomal fission (EMPF) enhanced S cone syndrome (ESCS); Goldmann-Favre syndrome; retinoschisis with early hemeralopia enlarged vestibular aqueduct syndrome (EVA) epilepsy X-linked with variable learning disabilities & behavior disorders (XELBD) Epstein syndrome ethylmalonic encephalopathy exocrine pancreatic insufficiency dyserythropoietic anemia & calvarial hyperostosis (EPIDACH) factor V Quebec familial amyloidosis familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) familial atypical multiple mole melanoma-pancreatic syndrome familial migraine syndrome familial pain syndrome familial periodic paralysis (hyperkalemic, normokalemic, hypokalemic, HYPP, NKPP, HYPOPP) familial scaphocephaly syndrome; scaphocephaly with maxillary retrusion & mental retardation Fanconi renotubular syndrome Fanconi-Bickel syndrome fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; fetal akinesia sequence; arthrogryposis multiplex congenita with pulmonary hypoplasia Flynn-Aird syndrome folate-sensitive fragile site FRA10A expression frontonasal dysplasia; frontonasal malformation; frontorhiny Fuhrmann syndrome; fibular aplasia or hypoplasia femoral bowing & poly- syn- & oligodactyly geleophysic dysplasia generalized epilepsy & paroxysmal dyskinesia Gitelman syndrome Goldberg-Shprintzen megacolon syndrome Griscelli syndrome Guttmacher syndrome Haim-Munk syndrome; keratosis palmoplantaris with periodontopathia; onychogryposis; Cochin Jewish disorder hand-foot-genital syndrome (hand-foot-uterus syndrome) Hartnup disease hemodialysis-related amyloidosis hepatic venoocclusive disease with immunodeficiency hepatocerebral mitochondrial DNA depletion syndrome (ARHCMDS) hereditary angioedema; hereditary angioneurotic edema (HANE, HAE) hereditary desmoid disease (familial infiltrative fibromatosis) hereditary hyperferritinemia-cataract syndrome hereditary leiomyomatosis & renal cell carcinoma syndrome hereditary neoplastic syndrome; cancer susceptibility syndrome hereditary periodic fever syndrome; periodic fevers; recurrent fever syndrome; familial autoinflammatory disease Hermansky-Pudlak syndrome heterotaxia; heterotaxy; situs ambiguus Holt-Oram syndrome; heart-hand syndrome Hoyeraal-Hreidarsson syndrome hydrolethalus syndrome hypercatabolic hypoproteinemia hyperinsulinism-hyperammonemia syndrome hyperprolinemia hypertension & brachydactyly hyperuricemia pulmonary hypertension renal failure & alkalosis (HUPRA) hypomelanosis of Ito (incontinentia pigmenti achromians) hypomyelination with congenital cataract hypotonia-cystinuria syndrome hypotrichosis with juvenile macular dystrophy ichthyosis follicularis-atrichia-photophobia syndrome ichthyosis hystrix-like with deafness syndrome (HID syndrome) ichthyosis-sclerosing cholangitis neonatal syndrome; ichthyosis with leukocyte vacuoles alopecia & sclerosing cholangitis (ILVASC) immunodeficiency centromeric instability-facial anomalies (ICF) syndrome infantile systemic hyalinosis inherited disorder of osteolysis; vanishing bone syndrome; osteolysis syndrome IVIC syndrome Jensen syndrome; opticoacoustic nerve atrophy with dementia Jervell & Lange-Nielsen syndrome juvenile hyaline fibromatosis Kabuki syndrome Kallmann syndrome; hypogonadotropic hypogonadism & anosmia KBG syndrome Kelley-Seegmiller syndrome keratitis-ichthyosis-deafness syndrome (KID syndrome) keratosis follicularis spinulosa decalvans (Siemens-1 syndrome) Keutel syndrome Kindler syndrome (hereditary acrokeratotic poikiloderma) Klinefelter's syndrome Knobloch syndrome Kowarski syndrome; pituitary dwarfism VI Kufor-Rakeb syndrome (Parkinson disease-9) lacrimo-auriculo-dento-digital syndrome (LADDS); Levy-Hollister syndrome Laron-type dwarfism-2; Laron syndrome type-2; Laron syndrome due to a post-receptor defect laryngoonychocutaneous syndrome Lawrence-Moon syndrome Leber optic atrophy & dystonia; familial dystonia with visual failure & striatal lucencies left-right axis malformation Leigh syndrome; infantile subacute necrotizing encephalopathy of Leigh LEOPARD syndrome (Moynahan's syndrome, multiple lentigenes syndrome) leprechaunism (Donohue syndrome) lethal congenital contracture syndrome type 2; Israeli Bedouin multiple contracture syndrome type A (LCCS2) lethal congenital contracture syndrome type 3; Israeli Bedouin multiple contracture syndrome type B (LCCS3) lethal tight skin contracture syndrome; restrictive dermopathy; Baraitser syndrome lethal type multiple pterygium syndrome Letterer-Siwe syndrome Liddle's syndrome (pseudohyperaldosteronism) LIG4 syndrome limb-mammary syndrome limb/pelvis-hypoplasia/aplasia syndrome (LPHAS); absence of ulna & fibula with severe limb deficiency lipodystrophy, familial partial, type 2 (Dunnigan type) (FPLD2, LDHCP); lipoatrophic diabetes Loeys-Dietz syndrome Lowe's oculocerebrorenal syndrome lymphedema & ptosis lymphedema-distichiasis syndrome lysyl hydroxylase 3 deficiency; bone fragility with contractures, arterial rupture & deafness Machinis syndrome macrocephaly/autism syndrome macrothrombocytopenia with sensorineural deafness MACS syndrome (macrocephaly, alopecia, cutis laxa & scoliosis syndrome) Majeed syndrome male pseudohermaphrodism with gynecomastia mandibuloacral dysplasia (MAD) Marfan syndrome Marinesco-Sjoegren syndrome Marshall syndrome Martsolf syndrome MCAP syndrome syndrome McCune-Albright syndrome McKusick-Kaufman syndrome (hydrometrocolpos syndrome, hydrometrocolpos, postaxial polydactyly, & congenital heart malformation) Meacham syndrome Meckel syndrome Meier-Gorlin syndrome Meleda disease; mal de meleda; keratosis palmoplantaris transgradiens mental retardation-aphasia-shuffling gait-adducted thumbs syndrome; corpus callosum hypoplasia, psychomotor retardation, adducted thumbs, spastic paraparesis, & hydrocephalus (MASA syndrome, CRASH syndrome) mental retardation-truncal obesity-retinal dystrophy-micropenis (MORMS) methylglutaconicaciduria microcephaly Amish type (Amish lethal microcephaly) microphthalmia with associated anomalies 2; anophthalmia with associated anomalies microphthalmia with cataracts & iris abnormalities Miller-Dieker lissencephaly syndrome mirror-image polydactyly of hands & feet without other anomalies mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) mosaic variegated aneuploidy syndrome Mowat-Wilson syndrome; Hirschsprung disease-mental retardation syndrome Muenke syndrome; Muenke non-syndromic coronal craniosynostosis Mulibrey nanism (muscle-liver-brain-eye nanism, pericardial constriction & growth failure) multiple synostoses syndrome muscle-eye-brain disease (MEB) myasthenic syndrome (congenital myasthenic syndrome, CMS) MYD88 deficiency (recurrent pyogenic bacterial infections due to MYD88 deficiency) myoclonus-renal failure syndrome (myoclonus-nephropathy syndrome) nail-patella syndrome (onychoosteodysplasia) Navajo neurohepatopathy Naxos disease nephropathy with pretibial epidermolysis bullosa & deafness Netherton syndrome; trichorrhexis invaginata; bamboo hair Neu-Laxova syndrome neurogenic muscle weakness, ataxia, & retinitis pigmentosa (NARP) neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) Nevo syndrome nonlethal type multiple pterygium syndrome; Escobar syndrome; Escobar variant multiple pterygium syndrome Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Noonan's syndrome Noonan-like syndrome (Noonan-like/multiple giant cell lesion syndrome) normophosphatemic familial tumoral calcinosis oculodigitoesophagoduodenal syndrome (Feingold syndrome) odontoonychodermal dysplasia oligodontia-colorectal cancer syndrome Opitz syndrome; Opitz GBBB syndrome, X-linked; Opitz syndrome type 1; hypertelorism-hypospadias syndrome; telecanthus-hypspadius syndrome oral-facial-digital syndrome Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia type 1) Osler-Weber-Rendu syndrome 2; hereditary hemorrhagic telangiectasia type 2 (HHT2, ORW2) otofaciocervical syndrome otopalatodigital syndrome (oto-palato-digital syndrome spectrum disorder) overgrowth syndrome; overgrowth malformation disorder overlap connective tissue disease (MASS syndrome) Pallister-Hall syndrome palmoplantar keratoderma with deafness (PPKDFN) PAPA syndrome; pyogenic sterile arthritis, pyoderma gangrenosum, & acne; familial recurrent arthritis Papillon-Lefevre syndrome (keratosis palmoplantaris with periodontopathia) Parkes-Weber syndrome PCC syndrome; premature chromosome condensation with microcephaly & mental retardation Pearson syndrome Pelizaeus-Merzbacher-like disease Pendred syndrome (goiter-deafness syndrome) Perrault syndrome persistent Mullerian duct syndrome Peters-plus syndrome phosphohydroxylysinuria Pierre Robin syndrome PIK3CA overgrowth syndrome Pitt-Hopkins syndrome popliteal pterygium syndrome Potocki-Shaffer syndrome Prader-Willi syndrome progeroid syndrome proteus syndrome pseudotrisomy 13 syndrome pseudoxanthoma elasticum (Gronold-Strandberg syndrome) PXE-like disorder with multiple coagulation factor deficiency; pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Rabson-Mendenhall syndrome (Mendenhall syndrome) RAPADILINO syndrome recessive Robinow syndrome renal-coloboma syndrome; papillorenal syndrome, optic nerve coloboma with renal disease Renpenning syndrome 1; Sutherland-Haan X-linked mental retardation syndrome; X-linked mental retardation syndromes MRXS3/MRXS8/MRX55 retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) Revesz syndrome; retinopathy exudative with bone marrow failure ring chromosome 20 syndrome Roberts syndrome (RBS) Robinow-Sorauf syndrome; craniosynostosis-bifid hallux syndrome Rokitansky-Kuster-Hauser syndrome (RKH syndrome); Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH syndrome, MRKH anomaly) Rubinstein-Taybi syndrome sarcoidosis early onset SC phocomelia syndrome scalp-ear-nipple syndrome Schimke immuno-osseous dysplasia Schopf-Schulz-Passarge syndrome Schwartz-Jampel syndrome (SJS1) Sebastian syndrome Seckel syndrome Segawa syndrome (DOPA-responsive dystonia) Senior-Loken syndrome (juvenile nephronophthisis with Leber amaurosis) Sertoli-cell-only syndrome Shprintzen-Goldberg craniosynostosis syndrome Shwachman-Bodian-Diamond syndrome Silver-Russell syndrome small patella syndrome; ischiopatellar dysplasia; Scott-Taor syndrome Smith-Lemli-Opitz syndrome (SLOS, SLO syndrome, RSH syndrome) Smith-Magenis syndrome Soto's syndrome (cerebral gigantism) spermatogenic failure non-obstructive Y-linked stapes ankylosis with broad thumb & toes steroid-resistance nephrotic syndrome Stickler syndrome or hereditary progressive arthroophthalmopathy stiff skin syndrome Stueve-Wiedemann syndrome (SWS); Schwartz-Jampel syndrome type 2 (SJS2) sudden infant death with dysgenesis of the testes syndrome (SIDDT) symphalangism proximal syndrome syndrome of thyroid hormone resistance; generalized thyroid hormone resistance; Refetoff syndrome syndromic microphthalmia 5 syndromic microphthalmia 6 syndromic microphthalmia 9 (Spear syndrome, Matthew-Wood syndrome) syndromic multisystem autoimmune disease T-cell immunodeficiency congenital alopecia & nail dystrophy tarsal-carpal coalition syndrome Temtamy preaxial brachydactyly syndrome tendinous calcinosis arthropathy & progeroid features (TCAPF) thrombocytopenia-absent radius (TAR) syndrome Tietz albinism-deafness syndrome Timothy syndrome Townes-Brocks syndrome tricho-rhino-phalangeal syndrome trichodentoosseous syndrome trichorhinophalangeal syndrome triphalangeal thumb-polysyndactyly syndrome (TPTPS) trismus-pseudocamptodactyly syndrome (Hecht-Beals syndrome, Dutch-Kentucky syndrome) trisomy 13 trisomy 18 trisomy 21 trisomy X; triple X syndrome Turner syndrome (ovarian agenesis) ulnar-mammary syndrome Urbach-Wieth disease (lipoid proteinosis, hyalinosis cutis et mucosae) Usher syndrome UV-sensitive syndrome VACTERL VACTERL association with hydrocephalus (includes VATER association with hydrocephalus) VACTERL association X-linked with or without hydrocephalus (VACTERLX) van der Woude syndrome (lip-pit syndrome) visceral heterotaxy Vohwinkel syndrome Waardenburg syndrome Wagner syndrome; Wagner vitreoretinopathy; erosive vitreoretinopathy Walker-Warburg syndrome; hydrocephalus, agyria & retinal dysplasia; Hard syndrome; Chemke syndrome; Pagon syndrome; cerebroocular dysplasia-muscular dystrophy syndrome Warburg micro syndrome Warburg micro syndrome 4 (WARBM4) Warburg microsyndrome 1 (WARBM1) Weaver-Smith syndrome Weill-Marchesani syndrome Weissenbacher-Zweymueller syndrome; heterozygous otospondylomegaepiphyseal dysplasia Weissenbacher-Zweymuller syndrome Weyers acrofacial dysostosis (Curry-Hall syndrome) WHIM syndrome; warts, hypogammaglobulinemia, infections, & myelokathexis Wiedemann-Steiner syndrome Witkop syndrome; tooth-&-nail syndrome; dysplasia of nails with hypodontia Wolcott-Rallison syndrome (WRS); multiple epiphyseal dysplasia with early-onset diabetes mellitus Wolf-Hirschhorn syndrome Wolfram syndrome 2 Wolfram syndrome; diabetes insipidus & mellitus with optic atrophy & deafness syndrome (DIDMOAD) wrinkly skin syndrome X-linked cleft palate with ankyloglossia X-linked creatine deficiency syndrome X-linked dyserythropoietic anemia & thrombocytopenia X-linked thrombocytopenia with beta-thalassemia; thrombocytopenia, platelet dysfunction, hemolysis, & imbalanced globin synthesis XFE progeroid syndrome XX male syndrome; de la Chapelle syndrome XXXXX syndrome XXXY syndrome Yemenite deaf-blind hypopigmentation syndrome

General

chronic disease genetic disease syndrome