genetic syndrome (multisystem disorder)

Introduction

genetic disorder with multisystemic manifestation

More general terms

• genetic disease
• syndrome
• chronic disease

More specific terms

• 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