Pediatrics
415 pronunciation guides. Children's health and development
A
Acardiac Twinay-KAR-dee-ak TWINAcute Lymphoblastic Leukemiaah-KYOOT lim-foh-BLAS-tik loo-KEE-mee-ahAcute Myeloid Leukemiaah-KYOOT MY-eh-loyd loo-KEE-mee-ahAdenosine Deaminase Deficiencyah-DEN-oh-seen dee-AM-ih-nays deh-FISH-en-seeAdrenal Neuroblastomaah-DREE-nal nyoor-oh-blas-TOH-mahAgenesis of the Corpus Callosumay-JEN-eh-sis uv thuh KOR-pus kah-LOH-sumAlagille Syndromeal-ah-ZHEEL SIN-drohmAlbinismAL-bih-niz-umAlobar HoloprosencephalyAY-loh-bar hoh-loh-pros-en-SEF-ah-leeAlpha ThalassemiaAL-fah thal-ah-SEE-mee-ahAlstrom SyndromeAWL-strum SIN-drohmAmbiguous Genitaliaam-BIG-yoo-us jeh-NIH-tay-lee-ahAmblyopiaam-blee-OH-pee-ahAmniotic Band Syndromeam-nee-OT-ik BAND SIN-drohmAnal AtresiaAY-nal ah-TREE-zhahAngelman SyndromeAYN-jel-man SIN-drohmAniridiaan-ih-RID-ee-ahAnomalous Left Coronary Artery from Pulmonary Arteryah-NOM-ah-lus LEFT kor-OH-nair-ee AR-ter-ee from PUL-moh-nair-ee AR-ter-eeAntithrombin Deficiencyan-tee-THROM-bin deh-FISH-en-seeAortic Stenosisay-OR-tik steh-NOH-sisApert SyndromeAY-pert SIN-drohmAplasia Cutis Congenitaah-PLAY-zhah KYOO-tis kon-JEN-ih-tahArthrogryposis Multiplex Congenitaar-throh-grih-POH-sis MUL-tih-pleks kon-JEN-ih-tahAtaxia-Telangiectasiaah-TAK-see-ah teh-lan-jek-TAY-zhahAtrial Septal DefectAY-tree-al SEP-tal DEE-fektAtrioventricular Septal Defectay-tree-oh-ven-TRIK-yoo-lar SEP-tal DEE-fektAttention Deficit Hyperactivity Disorderah-TEN-shun DEF-ih-sit hy-per-ak-TIV-ih-tee dis-OR-derAtypical Teratoid Rhabdoid Tumoray-TIP-ih-kul ter-ah-TOYD RAB-doyd TOO-merAutism Spectrum DisorderAW-tiz-um SPEK-trum dis-OR-derAutoimmune Lymphoproliferative Syndromeaw-toh-ih-MYOON lim-foh-proh-LIF-er-ah-tiv SIN-drohm
B
Bardet-Biedl Syndromebar-DAY BEE-del SIN-drohmBeckwith SyndromeBEK-with SIN-drohmBeckwith-Wiedemann OvergrowthBEK-with WEE-deh-man OH-ver-grohthBeckwith-Wiedemann SyndromeBEK-with WEE-deh-man SIN-drohmBeta ThalassemiaBAY-tah thal-ah-SEE-mee-ahBiliary AtresiaBIL-ee-air-ee ah-TREE-zhahBiliary HypoplasiaBIL-ee-air-ee hy-poh-PLAY-zhahBohring-Opitz SyndromeBOR-ing OH-pitz SIN-drohmBrachial Plexus InjuryBRAY-kee-al PLEKS-us IN-juh-reeBrachydactylybrak-ee-DAK-tih-leeBranchial Cleft CystBRANG-kee-al KLEFT SISTBronchogenic Cystbronk-oh-JEN-ik SISTBronchopulmonary Dysplasiabronk-oh-pul-MON-air-ee dis-PLAY-zhahBrugada Syndromebroo-GAH-dah SIN-drohmBruton AgammaglobulinemiaBROO-ton ay-gam-ah-glob-yoo-lin-EE-mee-ah
C
Campomelic Dysplasiakam-poh-MEL-ik dis-PLAY-zhahCamptodactylykamp-toh-DAK-tih-leeCardio-Facio-Cutaneous SyndromeKAR-dee-oh FAY-shee-oh kyoo-TAY-nee-us SIN-drohmCartilage-Hair HypoplasiaKAR-tih-lij HAIR hy-poh-PLAY-zhahCATCH22KACH TWEN-tee-TOOCatecholaminergic Polymorphic Ventricular Tachycardiakat-eh-kol-ah-min-ER-jik pol-ee-MOR-fik ven-TRIK-yoo-lar tak-ih-KAR-dee-ahCentral Core DiseaseSEN-tral KOR dih-ZEEZCentral Precocious PubertySEN-tral pree-KOH-shus PYOO-ber-teeCerebral Palsyser-EE-bral PAWL-zeeCHARGE AssociationCHARJ ah-soh-see-AY-shunCHARGE SyndromeCHARJ SIN-drohmChiari Malformationkee-AR-ee mal-for-MAY-shunCHILD SyndromeCHILD SIN-drohmChoanal Atresiakoh-AY-nal ah-TREE-zhahChondrodysplasia Punctatakon-droh-dis-PLAY-zhah punk-TAH-tahChristianson SyndromeKRIS-chen-sun SIN-drohmChronic Granulomatous DiseaseKRON-ik gran-yoo-LOH-mah-tus dih-ZEEZCleft LipKLEFT LIPCleft PalateKLEFT PAL-itCleidocranial Dysplasiakly-doh-KRAY-nee-al dis-PLAY-zhahClub FootKLUB FUTCoarctation of the Aortakoh-ark-TAY-shun uv thee ay-OR-tahCoffin-Siris SyndromeKAW-fin SY-ris SIN-drohmColobomakoh-loh-BOH-mahCommon Variable ImmunodeficiencyKOM-un VAIR-ee-ah-bul ih-myoo-noh-deh-FISH-en-seeCongenital Adrenal Hyperplasiakon-JEN-ih-tal ah-DREE-nal hy-per-PLAY-zhahCongenital Adrenal Hypoplasiakon-JEN-ih-tal ah-DREE-nal hy-poh-PLAY-zhahCongenital Aural Atresiakon-JEN-ih-tal AW-ral ah-TREE-zhahCongenital Candidiasiskon-JEN-ih-tal kan-dih-DY-ah-sisCongenital Cataractskon-JEN-ih-tal KAT-ah-raktsCongenital Chylothoraxkon-JEN-ih-tal ky-loh-THOR-aksCongenital Dermal Melanocytosiskon-JEN-ih-tal DER-mal mel-ah-noh-sy-TOH-sisCongenital Diaphragmatic Herniakon-JEN-ih-tal dy-ah-FRAG-mat-ik HER-nee-ahCongenital Disorder of Deglutitionkon-JEN-ih-tal dis-OR-der uv deg-loo-TIH-shunCongenital Disorder of Glycosylationkon-JEN-ih-tal dis-OR-der uv gly-KOS-ih-LAY-shunCongenital Erythrodermakon-JEN-ih-tal eh-rith-roh-DER-mahCongenital Erythropoietic Porphyriakon-JEN-ih-tal eh-rith-roh-poy-ET-ik por-FIH-ree-ahCongenital Esotropiakon-JEN-ih-tal es-oh-TROH-pee-ahCongenital Fiber Type Disproportionkon-JEN-ih-tal FY-ber TYP dis-proh-POR-shunCongenital Fibrosis of the Extraocular Muscleskon-JEN-ih-tal fy-BROH-sis uv thee eks-trah-OK-yoo-lar MUS-ulzCongenital Glaucomakon-JEN-ih-tal glaw-KOH-mahCongenital Heart Blockkon-JEN-ih-tal HART BLOKCongenital Herpes Simplexkon-JEN-ih-tal HER-peez SIM-pleksCongenital High Airway Obstruction Syndromekon-JEN-ih-tal HY AIR-way ob-STRUK-shun SIN-drohmCongenital Hip Dysplasiakon-JEN-ih-tal HIP dis-PLAY-zhahCongenital Hyperekplexiakon-JEN-ih-tal hy-per-ek-PLEKS-ee-ahCongenital Hyperinsulinismkon-JEN-ih-tal hy-per-IN-syoo-lin-izmCongenital Hyperthyroidismkon-JEN-ih-tal hy-per-THY-royd-izmCongenital Hypothyroidismkon-JEN-ih-tal hy-poh-THY-royd-izmCongenital Hypothyroidism Dyshormonogenesiskon-JEN-ih-tal hy-poh-THY-royd-izm dis-hor-moh-noh-JEN-eh-sisCongenital Laryngeal Webkon-JEN-ih-tal lah-RIN-jee-al WEBCongenital Lobar Emphysemakon-JEN-ih-tal LOH-bar em-fih-SEE-mahCongenital Lobar Overinflationkon-JEN-ih-tal LOH-bar oh-ver-in-FLAY-shunCongenital Lymphangiectasiakon-JEN-ih-tal lim-fan-jek-TAY-zhahCongenital Melanocytic Nevuskon-JEN-ih-tal mel-ah-noh-SIT-ik NEE-vusCongenital Mitral Stenosiskon-JEN-ih-tal MY-tral steh-NOH-sisCongenital Myasthenic Syndromekon-JEN-ih-tal my-as-THEN-ik SIN-drohmCongenital Myopathykon-JEN-ih-tal my-OP-ah-theeCongenital Myotonic Dystrophykon-JEN-ih-tal my-oh-TON-ik DIS-troh-feeCongenital Nephrotic Syndromekon-JEN-ih-tal neh-FROT-ik SIN-drohmCongenital Neutropeniakon-JEN-ih-tal nyoo-troh-PEE-nee-ahCongenital Nystagmuskon-JEN-ih-tal nis-TAG-musCongenital Ptosiskon-JEN-ih-tal TOH-sisCongenital Pulmonary Airway Malformationkon-JEN-ih-tal PUL-moh-nair-ee AIR-way mal-for-MAY-shunCongenital Rubellakon-JEN-ih-tal roo-BEL-ahCongenital Scoliosiskon-JEN-ih-tal skoh-lee-OH-sisCongenital Sensorineural Hearing Losskon-JEN-ih-tal sen-sor-ih-NYOO-ral HEER-ing LAWSCongenital Syphiliskon-JEN-ih-tal SIF-ih-lisCongenital Syphilitic Rashkon-JEN-ih-tal sih-FIL-it-ik RASHCongenital Toxoplasmosiskon-JEN-ih-tal tok-soh-plaz-MOH-sisCongenital Varicella Syndromekon-JEN-ih-tal vair-ih-SEL-ah SIN-drohmConjoined Twinskon-JOIND TWINZCornelia de Lange Syndromekor-NEE-lee-ah deh LANG-eh SIN-drohmCostello Syndromekos-TEL-oh SIN-drohmCraniopharyngiomakray-nee-oh-fah-rin-jee-OH-mahCraniosynostosiskray-nee-oh-sin-os-TOH-sisCri du Chat SyndromeKREE doo SHAH SIN-drohmCrouzon SyndromeKROO-zon SIN-drohmCryptorchidismkrip-TOR-kih-dizmCyclic NeutropeniaSY-klik nyoo-troh-PEE-nee-ahCystic FibrosisSIS-tik fy-BROH-sisCystic HygromaSIS-tik hy-GROH-mah
D
Dandy-Walker MalformationDAN-dee WAW-ker mal-for-MAY-shunDermoid Cyst of the SpineDER-moyd SIST uv thuh SPY-nal KORDDiamond-Blackfan AnemiaDY-ah-mund BLAK-fan ah-NEE-mee-ahDiastematomyeliady-as-teh-mah-toh-my-EE-lee-ahDiastrophic Dysplasiady-ah-STROH-fik dis-PLAY-zhahDiffuse Intrinsic Pontine Gliomadih-FYOOS in-TRIN-sik PON-teen glee-OH-mahDiGeorge Syndromedee-JORJ SIN-drohmDouble Outlet Right VentricleDUB-ul OWT-let RYT ven-TRIK-ulDravet Syndromedrah-VAY SIN-drohmDuane Retraction SyndromeDWAYN reh-TRAK-shun SIN-drohmDuodenal Atresiadoo-oh-DEE-nal ah-TREE-zhahDyskeratosis Congenitadis-ker-ah-TOH-sis kon-JEN-ih-tah
E
Ebstein AnomalyEB-styn ah-NOM-ah-leeEctodermal Dysplasiaek-toh-DER-mal dis-PLAY-zhahEctrodactylyek-troh-DAK-tih-leeEllis-van Creveld SyndromeEL-is van KREV-uld SIN-drohmEpendymomaeh-pen-dih-MOH-mahEpidermolysis Bullosaep-ih-der-MOH-lih-sis bul-OH-sahEpidermolytic Hyperkeratosisep-ih-der-moh-LIT-ik hy-per-ker-ah-TOH-sisErb PalsyERB PAWL-zeeErythema Toxicum Neonatorumeh-rih-THEE-mah TOK-sih-kum nee-oh-nah-TOR-umErythroblastosis Fetaliseh-rith-roh-blas-TOH-sis FEE-tah-lisEsophageal Atresiaih-sof-ah-JEE-al ay-TREE-zhahEwing SarcomaYOO-ing sar-KOH-mah
F
Facioscapulohumeral Muscular Dystrophyfay-shee-oh-skap-yoo-loh-HYOO-mer-al MUS-kyoo-lar DIS-troh-feeFactor V LeidenFAK-ter FYV LY-denFamilial Hemophagocytic Lymphohistiocytosisfah-MIL-ee-al hee-moh-fag-oh-SIT-ik lim-foh-his-tee-oh-sy-TOH-sisFamilial Mediterranean Feverfah-MIL-ee-al med-ih-ter-AY-nee-an FEE-verFanconi Anemiafan-KOH-nee ah-NEE-mee-ahFetal Alcohol SyndromeFEE-tal AL-koh-hol SIN-drohmFibrodysplasia Ossificans Progressivafy-broh-dis-PLAY-zhah os-ih-fih-KANZ proh-GRES-ih-vahFloating Harbor SyndromeFLOH-ting HAR-ber SIN-drohmFocal Cortical DysplasiaFOH-kal KOR-tih-kal dis-PLAY-zhahFocal Dermal HypoplasiaFOH-kal DER-mal hy-poh-PLAY-zhahFragile X SyndromeFRAJ-il eks SIN-drohm
G
Galactosemiagah-lak-toh-SEE-mee-ahGastroschisisgas-TROH-skee-sisGerminal Matrix HemorrhageJER-mih-nal MAY-triks HEM-oh-rijGlutaric Aciduria Type 1gloo-TAR-ik as-ih-DYOOR-ee-ah TYP WUNGlycogen Storage DiseaseGLY-koh-jen STOR-ij dih-ZEEZGoldenhar SyndromeGOHL-den-har SIN-drohmGreig Cephalopolysyndactyly SyndromeGREEG sef-ah-loh-pol-ee-sin-DAK-tih-lee SIN-drohmGrowth Hormone DeficiencyGROHTH HOR-mohn deh-FISH-en-see
H
Hemangiomaheh-man-jee-OH-mahHemophilia Ahee-moh-FIL-ee-ah AYHemophilia Bhee-moh-FIL-ee-ah BEEHenoch-Schonlein PurpuraHEN-ok SHURN-lyne PUR-pyoo-rahHepatoblastomahep-ah-toh-blas-TOH-mahHirschsprung DiseaseHIRSH-sproong dih-ZEEZHirschsprung-Associated EnterocolitisHIRSH-sproong ah-SOH-see-ay-ted en-ter-oh-koh-LY-tisHodgkin LymphomaHOJ-kin lim-FOH-mahHoloprosencephalyhoh-loh-pros-en-SEF-ah-leeHolt-Oram SyndromeHOHLT OR-am SIN-drohmHorseshoe KidneyHORS-shoo KID-neeHunter SyndromeHUN-ter SIN-drohmHydranencephalyhy-dran-en-SEF-ah-leeHydrocephalushy-droh-SEF-ah-lusHydrolethalus Syndromehy-droh-LEE-thal-us SIN-drohmHydrops FetalisHY-drops FEE-tah-lisHyper IgM SyndromeHY-per EYE-jee-EM SIN-drohmHypochondroplasiahy-poh-kon-droh-PLAY-zhahHypohidrotic Ectodermal Dysplasiahy-poh-hih-DROT-ik ek-toh-DER-mal dis-PLAY-zhahHypophosphatasiahy-poh-fos-fah-TAY-zhahHypophosphatemic Ricketshy-poh-fos-FAY-tee-mik RIK-etsHypoplastic Left Heart Syndromehy-poh-PLAS-tik left hart SIN-drohmHypoplastic Right Heart Syndromehy-poh-PLAS-tik RYT HART SIN-drohmHypospadiashy-poh-SPAY-dee-us
I
Ichthyosisik-thee-OH-sisImmune Thrombocytopenic Purpuraih-MYOON throm-boh-sy-toh-PEE-nik PUR-pyoo-rahIncontinentia Pigmentiin-kon-tih-NEN-shee-ah pig-MEN-teeIncontinentia Pigmenti Stage 1in-kon-tih-NEN-shee-ah pig-MEN-tee STAYJ WUNIntestinal Atresiain-TES-tih-nal ah-TREE-zhahIntrauterine Growth Restrictionin-trah-YOO-ter-in GROHTH reh-STRIK-shunIntraventricular Hemorrhagein-trah-ven-TRIK-yoo-lar HEM-oh-rijIntussusceptionin-tus-suh-SEP-shunIsovaleric Acidemiaeye-soh-vah-LAIR-ik as-ih-DEE-mee-ah
J
K
Kabuki Make-Up Syndromekah-BOO-kee MAYK-up SIN-drohmKabuki Syndromekah-BOO-kee SIN-drohmKartagener Syndromekar-TAH-gen-er SIN-drohmKBG SyndromeKAY-BEE-JEE SIN-drohmKernicterusker-NIK-ter-usKlippel-Feil SyndromeKLIP-ul FYL SIN-drohmKlumpke PalsyKLUMP-kee PAWL-zeeKostmann SyndromeKOST-man SIN-drohmKrabbe DiseaseKRAB-ay dih-ZEEZ
L
Landau-Kleffner SyndromeLAN-dow KLEF-ner SIN-drohmLaryngomalacialah-ring-oh-mah-LAY-shee-ahLeigh SyndromeLEE SIN-drohmLennox-Gastaut SyndromeLEN-oks gas-TOH SIN-drohmLEOPARD SyndromeLEP-ard SIN-drohmLimb-Girdle Muscular DystrophyLIM-GIRD-ul MUS-kyoo-lar DIS-troh-feeLissencephalylis-en-SEF-ah-leeLong QT SyndromeLONG KYOO-TEE SIN-drohm
M
Macrocephalymak-roh-SEF-ah-leeMacrosomiamak-roh-SOH-mee-ahMalan SyndromeMAY-lan SIN-drohmMalrotation of the Intestinemal-roh-TAY-shun uv thuh IN-tes-tynMaple Syrup Urine DiseaseMAY-pul SIR-up YOOR-in dih-ZEEZMeckel DiverticulumMEK-ul dy-ver-TIK-yoo-lumMeckel-Gruber SyndromeMEK-ul GROO-ber SIN-drohmMeconium Aspiration Syndromemeh-KOH-nee-um as-pih-RAY-shun SIN-drohmMedium-Chain Acyl-CoA Dehydrogenase DeficiencyMEE-dee-um CHAYN AS-il koh-AY dee-hy-DROJ-en-ays deh-FISH-en-seeMedulloblastomameh-dul-oh-blas-TOH-mahMELAS SyndromeMEE-las SIN-drohmMeningocelemeh-NIN-goh-seelMERRF SyndromeMERF SIN-drohmMetachromatic Leukodystrophymet-ah-kroh-MAT-ik loo-koh-DIS-troh-feeMetaphyseal Dysplasiamet-ah-FIZ-ee-al dis-PLAY-zhahMethylmalonic Acidemiameth-il-mah-LON-ik as-ih-DEE-mee-ahMHC Class II DeficiencyEM-AYCH-SEE KLAS TOO deh-FISH-en-seeMicrocephalymy-kroh-SEF-ah-leeMicrotiamy-KROH-shee-ahMidgut VolvulusMID-gut VOL-vyoo-lusMitochondrial Diseasemy-toh-KON-dree-al dih-ZEEZMitral Valve ProlapseMY-tral VALV PROH-lapsMoebius SyndromeMOH-bee-us SIN-drohmMondini Dysplasiamon-DEE-nee dis-PLAY-zhahMowat-Wilson SyndromeMOH-wat WIL-sun SIN-drohmMucopolysaccharidosismyoo-koh-pol-ee-sak-ah-RY-doh-sisMultiple Epiphyseal DysplasiaMUL-tih-pul eh-PIH-fiz-ee-al dis-PLAY-zhahMURCS AssociationMERKS ah-soh-see-AY-shunMyelomeningocelemy-eh-loh-meh-NIN-goh-seelMyotubular Myopathymy-oh-TOO-byoo-lar my-OP-ah-thee
N
Necrotizing EnterocolitisNEK-roh-ty-zing en-ter-oh-koh-LY-tisNemaline MyopathyNEM-ah-leen my-OP-ah-theeNeonatal Abstinence Syndromenee-oh-NAY-tal ab-STIH-nents SIN-drohmNeonatal Acnenee-oh-NAY-tal AK-neeNeonatal Alloimmune Thrombocytopenianee-oh-NAY-tal al-oh-ih-MYOON throm-boh-sy-toh-PEE-nee-ahNeonatal Diabetes Mellitusnee-oh-NAY-tal dy-ah-BEE-teez MEL-ih-tusNeonatal Hypocalcemianee-oh-NAY-tal hy-poh-kal-SEE-mee-ahNeonatal Hypoglycemianee-oh-NAY-tal hy-poh-gly-SEE-mee-ahNeonatal Jaundicenee-oh-NAY-tal JAWN-disNeonatal Lupusnee-oh-NAY-tal LOO-pusNeonatal Pemphigusnee-oh-NAY-tal PEM-fih-gusNeonatal Polycythemianee-oh-NAY-tal pol-ee-sy-THEE-mee-ahNeonatal Sepsisnee-oh-NAY-tal SEP-sisNephronophthisisnef-ron-OF-thih-sisNephrotic Syndromeneh-FROT-ik SIN-drohmNetherton SyndromeNETH-er-ton SIN-drohmNeuroblastomanyoor-oh-blas-TOH-mahNeurofibromatosis Type 1nyoor-oh-fy-broh-mah-TOH-sis TYP WUNNeurofibromatosis Type 2nyoor-oh-fy-broh-mah-TOH-sis TYP TOONon-Hodgkin Lymphomanon-HOJ-kin lim-FOH-mahNoonan SyndromeNOO-nan SIN-drohmNoonan Syndrome with Loose Anagen HairNOO-nan SIN-drohm with LOOS AN-ah-jen HAIR
O
Omenn SyndromeOH-men SIN-drohmOmphaloceleom-FAL-oh-seelOptic Nerve HypoplasiaOP-tik NERV hy-poh-PLAY-zhahOptic Pathway GliomaOP-tik PATH-way glee-OH-mahOrganic Acidemiaor-GAN-ik as-ih-DEE-mee-ahOrnithine Transcarbamylase Deficiencyor-NIH-theen trans-KAR-bah-my-lays deh-FISH-en-seeOsteochondrodysplasiaos-tee-oh-kon-droh-dis-PLAY-zhahOsteosarcomaos-tee-oh-sar-KOH-mah
P
Pachygyriapak-ih-JY-ree-ahPallister-Hall SyndromePAL-is-ter HAWL SIN-drohmPallister-Killian SyndromePAL-is-ter KIL-ee-an SIN-drohmPanhypopituitarismpan-hy-poh-pih-TOO-ih-tah-rizmPatent Ductus ArteriosusPAY-tent DUK-tus ar-teer-ee-OH-susPendred SyndromePEN-dred SIN-drohmPeriodic Fever Syndromepeer-ee-OD-ik FEE-ver SIN-drohmPeriventricular Leukomalaciapair-ih-ven-TRIK-yoo-lar loo-koh-mah-LAY-shee-ahPerlman SyndromePERL-man SIN-drohmPersistent Pulmonary Hypertension of the Newbornper-SIS-tent PUL-moh-nair-ee hy-per-TEN-shun uv thuh NOO-bornPeters AnomalyPEE-terz ah-NOM-ah-leePfeiffer SyndromeFY-fer SIN-drohmPHACES SyndromeFAY-sez SIN-drohmPierre Robin Sequencepee-YAIR ROH-ban SEE-kwensPierre-Robin Syndromepee-YAIR ROH-ban SIN-drohmPilocytic Astrocytomapy-loh-SIT-ik as-troh-sy-TOH-mahPitt-Hopkins SyndromePIT HOP-kinz SIN-drohmPolyarteritis Nodosapol-ee-ar-ter-EYE-tis noh-DOH-sahPolycystic Kidney Diseasepol-ee-SIS-tik KID-nee dih-ZEEZPolydactylypol-ee-DAK-tih-leePompe DiseasePOM-pay dih-ZEEZPorencephalypor-en-SEF-ah-leePosterior Urethral Valvespos-TEER-ee-er yoo-REE-thral VALVZPotocki-Lupski Syndromepoh-TOK-ee LOOP-skee SIN-drohmPotter SequencePOT-er SEE-kwensPrader-Willi SyndromePRAH-der WIL-ee SIN-drohmPremature Birth Complicationspree-mah-CHOOR BERTH kom-plih-KAY-shunzPrimary Ciliary DyskinesiaPRY-mair-ee SIL-ee-air-ee dis-kih-NEE-zhahPrimitive Neuroectodermal TumorPRIH-mih-tiv nyoor-oh-ek-toh-DER-mal TOO-merPropionic Acidemiaproh-pee-ON-ik as-ih-DEE-mee-ahProtein C DeficiencyPROH-teen SEE deh-FISH-en-seeProtein S DeficiencyPROH-teen ES deh-FISH-en-seePrune Belly SyndromePROON BEL-ee SIN-drohmPulmonary Arteriovenous MalformationPUL-moh-nair-ee ar-teer-ee-oh-VEE-nus mal-for-MAY-shunPulmonary AtresiaPUL-moh-nair-ee ah-TREE-zhahPulmonary SequestrationPUL-moh-nair-ee sek-weh-STRAY-shunPulmonary StenosisPUL-moh-nair-ee steh-NOH-sisPurine Nucleoside Phosphorylase DeficiencyPYOOR-een NOO-klee-oh-syd fos-FOR-ih-lays deh-FISH-en-seePycnodysostosispik-noh-dis-OS-toh-sisPyloric Stenosispy-LOR-ik steh-NOH-sisPyruvate Kinase Deficiencypy-ROO-vayt KY-nays deh-FISH-en-see
R
Radial Club HandRAY-dee-al KLUB HANDRenal AgenesisREE-nal ay-JEN-eh-sisRespiratory Distress Syndromeres-pih-rah-TOR-ee dis-TRES SIN-drohmReticular Dysgenesisreh-TIK-yoo-lar dis-JEN-eh-sisRetinitis Pigmentosaret-ih-NY-tis pig-men-TOH-sahRetinoblastomaret-ih-noh-blas-TOH-mahRetinopathy of Prematurityret-ih-NOP-ah-thee uv pree-mah-CHOOR-ih-teeRett SyndromeRET SIN-drohmRhabdomyosarcomarab-doh-my-oh-sar-KOH-mahRicketsRIK-etsRubella Syndromeroo-BEL-ah SIN-drohmRubinstein-Taybi SyndromeROO-bin-styne TAY-bee SIN-drohmRussell-Silver SyndromeRUS-ul SIL-ver SIN-drohm
S
Sacral AgenesisSAY-kral ay-JEN-eh-sisSacrococcygeal Teratomasay-kroh-kok-SIJ-ee-al ter-ah-TOH-mahSchizencephalyskiz-en-SEF-ah-leeScimitar SyndromeSIM-ih-tar SIN-drohmSebaceous Nevusseh-BAY-shus NEE-vusSelective IgA Deficiencyseh-LEK-tiv EYE-jee-AY deh-FISH-en-seeSelective Intrauterine Growth Restrictionseh-LEK-tiv in-trah-YOO-ter-in GROHTH reh-STRIK-shunSenior-Loken SyndromeSEE-nee-er LOH-ken SIN-drohmSepto-Optic DysplasiaSEP-toh OP-tik dis-PLAY-zhahSevere Combined Immunodeficiencyseh-VEER kom-BYND ih-myoo-noh-deh-FISH-en-seeShort Bowel SyndromeSHORT BOW-el SIN-drohmShort-Rib Polydactyly SyndromeSHORT-RIB pol-ee-DAK-tih-lee SIN-drohmShwachman-Diamond SyndromeSHWAK-man DY-ah-mund SIN-drohmSickle Cell DiseaseSIK-ul sel dih-ZEEZSimpson-Golabi-Behmel SyndromeSIMP-sun goh-LAH-bee BAY-mul SIN-drohmSingle VentricleSING-ul VEN-trik-ulSitus InversusSY-tus in-VER-susSmith-Lemli-Opitz SyndromeSMITH LEM-lee OH-pitz SIN-drohmSmith-Magenis SyndromeSMITH mah-JEN-is SIN-drohmSotos SyndromeSOH-tohs SIN-drohmSphingolipidosissfing-oh-lip-ih-DOH-sisSpinal Muscular AtrophySPY-nal MUS-kyoo-lar ah-TROH-feeSpondyloepiphyseal Dysplasiaspon-dih-loh-eh-PIH-fiz-ee-al dis-PLAY-zhahSprengel DeformitySPRENG-ul deh-FOR-mih-teeStaphylococcal Scalded Skin Syndromestaf-ih-loh-KOK-al SKAWLD-ed SKIN SIN-drohmStickler SyndromeSTIK-ler SIN-drohmSturge-Weber SyndromeSTERJ WEB-er SIN-drohmSubependymal Heterotopiasub-eh-PEN-dih-mal het-er-oh-TOH-pee-ahSubglottic Stenosissub-GLOT-ik steh-NOH-sisSubvalvular Aortic Stenosissub-VAL-vyoo-lar ay-OR-tik steh-NOH-sisSupravalvular Aortic Stenosissoo-prah-VAL-vyoo-lar ay-OR-tik steh-NOH-sisSyndactylysin-DAK-tih-leeSyringomyeliasih-ring-oh-my-EE-lee-ahSystemic Lupus Erythematosussis-TEM-ik LOO-pus eh-rith-eh-mah-TOH-sus
T
Tay-Sachs DiseaseTAY-SAKS dih-ZEEZTethered Spinal CordTETH-erd SPY-nal KORDTetralogy of Fallotteh-TRAL-oh-jee uv fah-LOHThanatophoric Dysplasiathan-ah-toh-FOR-ik dis-PLAY-zhahThyroglossal Duct Cystthy-roh-GLOS-al DUKT SISTTotal Anomalous Pulmonary Venous ReturnTOH-tal ah-NOM-ah-lus PUL-moh-nair-ee VEE-nus reh-TURNTracheomalaciatray-kee-oh-mah-LAY-shee-ahTransient Neonatal Pustular MelanosisTRAN-zhent nee-oh-NAY-tal PUS-choo-lar mel-ah-NOH-sisTransient Tachypnea of the NewbornTRAN-zhent tak-IP-nee-ah uv thuh NOO-bornTransposition of the Great Arteriestrans-poh-ZIH-shun uv thuh grayt ar-TEER-eezTreacher Collins SyndromeTREE-cher KOL-inz SIN-drohmTricuspid Atresiatry-KUS-pid ah-TREE-zhahTrisomy 13TRY-soh-mee THER-teenTrisomy 18TRY-soh-mee AY-teenTruncus ArteriosusTRUNK-us ar-teer-ee-OH-susTuberous Sclerosis ComplexTOO-ber-us skleh-ROH-sis KOM-pleksTwin to Twin Transfusion SyndromeTWIN tuh TWIN trans-FYOO-zhun SIN-drohmTyrosinemiaty-roh-sih-NEE-mee-ah
V
VACTERL AssociationVAK-ter-al ah-soh-see-AY-shunVanishing Twin SyndromeVAN-ish-ing TWIN SIN-drohmVariegate PorphyriaVAIR-ee-eh-gayt por-FIH-ree-ahVascular MalformationVAS-kyoo-lar mal-for-MAY-shunVATER AssociationVAY-ter ah-soh-see-AY-shunVelocardiofacial Syndromevel-oh-kar-dee-oh-FAY-shul SIN-drohmVentricular Septal Defectven-TRIK-yoo-lar SEP-tal DEE-fektVery Long-Chain Acyl-CoA Dehydrogenase DeficiencyVAIR-ee LONG CHAYN AS-il koh-AY dee-hy-DROJ-en-ays deh-FISH-en-seeVesicoureteral Refluxves-ih-koh-yoo-REE-ter-al REE-fluksVocal Cord ParalysisVOH-kal KORD pair-ah-LY-sisVon Hippel-Lindau Diseasefon HIP-ul LIN-dow dih-ZEEZvon Willebrand Diseasefon WIL-eh-brand dih-ZEEZ