Diagnosis List Early Support for Infants and Toddlers (ESIT) Click on the Letters Below to Jump to that Section, or Hit the “Ctrl” Key and Letter “F” on Your Keyboard to Search the Document by Keywords A E I M Q U Y B F J N R V Z C G K O S W D H L P T X A Absence of limb Adams Oliver Alper Disease Anoxic Insult to Brain Arthropathy Syndrome Absent Septum Adrenoleukodystrophy Alport Syndrome Anticonvulsant Asphyxia w brain Pellucidum exposure damage Abuse Agenesis of Corpus Alstrom Syndrome Anxiety Disorder Not Ataxia Telangiectasia Callosum Otherwise Specified (NOS) Achondrogenesis I Aicardi Syndrome Amniotic Band Apert Syndrome Atrioventricular canal Syndrome defect Achondrogenesis II Alagille Syndrome Amputation of leg at APGAR score 3 or less Auditory Neuropathy hip @ 20 min Spectrum Disorder Achondroplasia Albinism Anencephaly APGAR score of five or Aural Atresia, Bilateral less at five minutes or Unilateral Acrocallosal Alcohol-Related Angelman Syndrome Aphasia Autism Spectrum Syndrome, Schinzel Neurodevelopmental Disorder Disorder Acrodysostosis Alexander Disease Aniridia Argininosuccinic aciduria Acute Lymphoid Alexia and dyslexia Anophthalmia, Arnold-Chiari Leukemia bilateral Malformation Acute Stress Disorder Allan Herndon Anophthalmia, Arthrogryposis Syndrome unilateral Updated October 18, 2019 1 ESIT DIAGNOSIS LIST B Baller Gerold Batten Disease Biliary Atresia Brachial Plexus Palsy Bronchopulmonary Syndrome Dysplasia (BPD) Bannayan Riley Beals Syndrome Bjornstad Syndrome Brain Tumor Ruvalcaba Bardet-Biedl Beckwith Wiedemann Blackfan-Diamond Branchio-oculo-facial Syndrome Syndrome Syndrome Syndrome Bartter Syndrome Benign Enlargement of Bloch-Sulzberger Branchio-Oto-Renal the Subarachnoid Space Syndrome (BOR) Syndrome in infancy (aka: BESS) C C Syndrome Chromosome 2q32 Chromosome 9q Chromosome 17p 13.2 Coarctation of aorta Deletion Partial Monosomy duplication Cancer Chromosome 3, Chromosome 9p Chromosome 17p13.1 Cockayne Syndrome Monsomy 3p2 Deletion Syndrome Caravan disease Chromosome 3, Chromosome 10, Chromosome 17p13.2 Coffin-Lowry Trisomy 3q2 Monosomy 10p microdeletion Syndrome Cardiac anomaly, Chromosome 3q26.1- Chromosome 10q Chromosome 17q12 Coffin-Siris Syndrome major 3q26.2 deletion duplication Syndrome Deletion Cardiofaciocutaneous Chromosome 4 Ring Chromosome 10q25 Chromosome 17q12 Cogan Syndrome Syndrome deletion Syndrome duplication Cardiomyopathy Chromosome 4, Chromosome 10q26 Chromosome 18 Cogan-Reese Monosomy 4q deletion Syndrome Trisomy Syndrome Carpenter Syndrome Chromosome 4, Chromosome 11, Chromosome 18 Ring Cohen Syndrome Monosomy Distal 4q Partial Monosomy 11q Cat Eye Syndrome Chromosome 4, Chromosome 11, Chromosome 18, Coloboma Partial Trisomy Distal Partial Trisomy Tetrasomy 18p 4q 11p14.3 Cataracts, Congenital Chromosome 4, Chromosome 11, Chromosome 18q Colpocephaly Trisomy 4p Partial Trisomy 11q Deletion Syndrome Catel-Manzke Chromosome 5, Chromosome 12 Chromosome 18p Complex congenital Syndrome Trisomy 5p Deletion Deletion Syndrome heart disease Caudal Regression Chromosome 5p Chromosome 12 Chromosome 19p Congestive Heart Syndrome Deletion Syndrome Partial Trisomy duplicaton Failure Central auditory Chromosome 5q Chromosome 12p Chromosome 20q Conjoined twin processing disorder minus Syndrome duplication Trisomy Cerebellar agenesis Chromosome 6 Ring Chromosome Trisomy Chromosome 21q Connexin 26 13 Partial Deletion Syndrome Updated October 18, 2019 2 ESIT DIAGNOSIS LIST Cerebellar Ataxia Chromosome 6, Chromosome 13, Chromosome 22 Ring Connexin 30 gene Partial Trisomy 6q Partial Monosomy 13q mutation Cerebral atrophy Chromosome 6p Chromosome 14 Chromosome 22, Conradi-Hunermann Partial Monosomy Deletion Trisomy Mosaic Syndrome Cerebral Bleed Chromosome 7, Chromosome 14 Ring Chromosome 22q11.2 Cortical Dysplasia Partial Monosomy 7p duplication Cerebral Dysgenesis Chromosome 7p Chromosome 14, Chromosome 22Q Cortical Visual Partial Duplication Trisomy Mosaic Deletion Syndrome Impairment Cerebral Palsy Chromosome 7q Chromosome 15 Ring Chromosome Trisomy Costello Syndrome duplication 8 Cerebro Oculo Facio Chromosome 7q Chromosome 15, Chromosome Xp Crainosystosis Skel Syndrome Partial Monosomy Distal Trisomy 15q deletion Cerebromalacia Chromosome 8, Chromosome 15q11- Chronic respiratory Cranio-facial Monosomy 8p2 q13 Dup failure anomalies CHARGE Syndrome Chromosome 9 Ring Chromosome 15q24 Cleft Lip CranioSyndromeostosis microdeletion without Radial Defects Childhood onset Chromosome 9, Chromosome 15q13.3 Cleft Palate Crigler-Najjar fluency disorder Complete Trisomy 9P Microdeletion Syndrome Choanal Atresia Chromosome 9, Chromosome Partial Clinodactyly Crouzon Syndrome (unilateral or Tetrasomy 9p Deletion of 16q bilateral) Chromosome 1p36 Chromosome 9, Chromosome Partial Closed Head Injury Cystic Fibrosis Deletion Syndrome Trisomy Mosaic Deletion of 16p Chromosome 2q37 Chromosome 16 Club Foot Cytomegalovirus Deletion Duplication D Dandy Walker Developmental Down Syndrome Duchenne Muscular Dysphagia,pharyngeal Syndrome Apraxia of Speech Dystrophy phase De Barsy Syndrome Developmental Dravet Syndrome Dyggve Melchior Dysphagia,unspecified Coordination disorder Clausen Syndrome De Sanctis Cacchione Diaphragmatic Hernia Drug Exposure, Dysarthria Dystonia Musculorum Syndrome Prenatal Deformans Deaf-blind Disc pigmentation Duane Syndrome Dysphagia, oral Syndrome, Congenital Dejerine Sottas DOOR Syndrome Dubowitz Syndrome Dysphagia, Disease oropharyngeal phase E Encephalits, Japanese Encephalopathy Encephalopathy, Epilepsy Esophogeal Atresia Congenita Static Encephalocele Encephalopathy, Epidermal Nevus Epstein's Syndrome Expressive language Hypoxic Ischemic Syndrome disorder Updated October 18, 2019 3 ESIT DIAGNOSIS LIST F Fabry Disease Familial exudative Fetal Hydantoin Filippi Syndrome Freeman Sheldon vitreoretinopathy Syndrome Syndrome Facial Palsy Familial MR Syndrome Fetal Valproate Floating Harbor Friedreich's ataxia Syndrome Syndrome Facioscapulohumeral Feeding difficulties FG Syndrome Forbes Disease Fukuyama Type Muscular Dystrophy and mismanagement Congenital Muscular Dystrophy Fahr's Disease Femoral Facial Fiber Type Fountain Syndrome Syndrome Disproportion Failure to Thrive Fetal Alcohol Fibrodysplasia Fracture of Vertebral Spectrum Disorder Ossificans Progressiva Column with Spinal Cord Injury Familial Dysautonomia Fetal Alcohol Fibromatosis, Fragile X Syndrome Syndrome Congenital Generalized G Galactosemia Gastroschisis Glaucoma Goldenhar Syndrome Guillain Barre Syndrome Galloway-Mowat Gaucher Disease Global Developmental Gordon Syndrome Syndrome Types I, II, & III Delay Gangliosidosis Generalized Anxiety Glycinemia Gorlin-Chaudhry-Moss Disorder Syndrome H Hallgren Syndrome Hemihyperplasia Holoporencephaly Hydrocephalus, Hypoplastic Left Heart Congenital Syndrome Hand-Schuller- Hemimegalencephaly Homocystinuria Hydrocephalus, Post- Hypotonia, Christian hemorrhagic Congenital, Non- Benign Form Hearing Loss Hemophilia Hunter Syndrome Hydrops fetalis (permanent conductive) Hearing Loss Heterotopia Huntington's Disease Hypertension (sensorineural) pulmonary Heart transplant Hirschsprung Disease Hurler Syndrome Hypertonia Hemifacial HIV Hydranencephaly Hypopituitarism, microsomia Congenital Updated October 18, 2019 4 ESIT DIAGNOSIS LIST I I Cell Disease Infantile Anorexia Infantile Neuroaxonal Intrauterine Growth Intraventricular Dystrophy Restriction (IUGR) Hemorrhage (IVH), all grades Infant of mother with Infantile Botulism Infantile Spasms, Intraventricular Cyst untreated PKU Epilepsy J Jansen Type Jervell & Lange- Johanson-Blizzard Joubert Syndrome Juvenile Juvenile Metaphyseal Nielsen Syndrome Syndrome Myelomonocytic Rheumatoid Chondrodysplasia Leukemia Arthritis K Kabuki Make-up Keratitis Ichthyosis Klinefelter Syndrome Klippel-Trenaunay Krabbe disease Syndrome Dfns Syndrome Syndrome Kearns-Sayre Kernicterus Klippel-Feil Syndrome Kniest Dysplasia Kugelberg Welander Syndrome Syndrome L Lambert-Eaton Lead encephalopathy Lesch-Nyhan Lipodystrophy Lymphoma Myasthenic Syndrome Syndrome (LNS) Landau Kleffner Lead level =5 mcg/dL, Leukemia Lissencephaly Lysosomal Storage Syndrome blood Disorders Langer-Giedion Leber Congenital Leukodystrophy Locked In Syndrome Syndrome Amaurosis Language delay Legg Calve Perthes Levy-Yeboa Low Birth Weight Disease Syndrome <1500 grams Laryngotracheoesophageal Leigh's Disease Ligase IV Syndrome Lowe Syndrome cleft Laurence Moon Lennox Gastaut Linear Sebaceous Lumbosacral Syndrome Syndrome Nevus Sequence Agenesis M Macrocephaly McCune Albright Microphthalmia Mucopolysaccharidosis Myoclonus, General Syndrome (not IVB) Macrocephaly cutis Meckel-Gruber Miller Syndrome Mucopolysaccharidosis Myopathy, Batten marmorata Syndrome VII Turner telangiectatica congenita syndrome (M-CMTC) Malignant neoplasm MELAS Syndrome Missing Fingers Multiple Sulfatase Myopathy, Congenital of the kidney (Mitochondrial Deficiency Updated October 18, 2019 5 ESIT DIAGNOSIS LIST encephalomyopathy, lactic acidosis, and stroke-like episodes) Maple Syrup Urine Meningitis Mitochondrial Muscular Dystrophies, Myopathy, Desmin Disease, untreated myopathy Limb Girdle Storage Marcus Gunn Menkes Syndrome Mixed receptive Muscular Dystrophy, Myopathy, Phenomenon expressive language Becker Scapuloperoneal disorder Marden Walker MERRF Syndrome Moebius Sequence Muscular Dystrophy, Myositis Ossificans Syndrome (myoclonic epilepsy Emery Dreifuss Progressiva with ragged red fibers) Marfan Syndrome Metaphyseal Morquio Syndrome Muscular Dystrophy, Myotonia Congenita Chondrodysplasia, Oculogastrointestinal