DOCSLIB.ORG

Early on Michigan Established Conditions List

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Early on Michigan Established Conditions List Early On® Michigan Established Conditions Established conditions indicate automatic eligibility for Early On supports and services. Established conditions must be diagnosed by an appropriate health care or mental health provider and documented in a medical or other record (i.e., a Child Abuse Prevention and Treatment Act (CAPTA) referral that references a medical diagnosis). Conditions include but are not limited to, the following: 1. Congenital Anomalies 1.6. Digestive System • Other chromosomal anomalies such as 1.1. Central Nervous System • Esophageal atresia/ tracheoesophageal fistula microdeletions and • Agenesis of the corpus • Gastroschisis duplications callosum • Hirschsprung’s disease • Holoprosencephaly 3. Infectious Conditions • Omphalocele • Hydrocephalus w/o spina • Pyloric stenosis 3.1. Congenital Infections bifida • HIV/AIDS • Microcephalus 1.7. Genital & Urinary Organs • Syphilis • Spina bifida w/o • Hypospadias and • TORCH: anencephaly epispadias o Toxoplasmosis 1.2. Eye, Ear, Face, and Neck • Renal agenesis o Other agents • Craniofacial syndromes 1.8. Musculoskeletal System o Rubella such as: • Achondroplasia o Cytomegalovirus o Pierre Robin sequence • Arthrogryposis o Herpes simplex o Treacher Collins • Congenital hip dislocation • Cytomegalovirus (CMV) syndrome • Lower limb reduction • Other congenital • Anopthalmos deformities infections such as Zika • Anotia/microtia • Upper limb reduction 3.2. Acquired Infections • CHARGE syndrome deformities • Bacterial meningitis • Congenital cataract • Other congenital • Encephalitis • Craniosynostosis anomalies of the • Poliomyelitis • Micropthalmos musculoskeletal system • Viral meningitis 1.9. Other and Unspecified 1.3. Heart and Circulatory System 4. Endocrine/Metabolic • Bardet-Biedl syndrome • Aortic valve atresia and Disorders • Fragile X syndrome stenosis 4.1. Mucopolysaccharidosis • Coarctation of aorta 2. Chromosomal Anomalies • Hunter syndrome • Hypoplastic left heart • Angelman syndrome • Hurler syndrome • Patent ductus arteriosus • Cri-du-Chat syndrome • Maroteaux-Lamy (PDA) • DiGeorge syndrome syndrome • Tetralogy of Fallot (Velo-cardio-facial • Sanfilippo syndrome • Other serious congenital syndrome) • Scheie syndrome heart defects • Kleinfelter syndrome • Sly syndrome 1.4. Respiratory System • Prader-Willi syndrome • Trisomy 21 (Down 4.2. Enzyme Deficiency • Choanal atresia syndrome) • Biotinidase deficiency • Diaphragmatic hernia • Trisomy 13 (Patau • Medium-chain acyl-CoA • Lung agenesis-hypoplasia syndrome) dehydrogenase deficiency 1.5. Cleft Lip & Palate • Trisomy 18 (Edwards (MCAD) • Cleft palate w/o cleft lip syndrome) • Oculocerebrorenal • Cleft lip w/ and w/o cleft • Turner syndrome syndrome (Lowe palate • Williams syndrome syndrome) Wednesday, June 2, 2021 1 Note: The Endocrine/Metabolic Disorders Category also includes all disorders tested for in the Michigan Newborn Screening Program. Early On® Michigan Established Conditions Established conditions indicate automatic eligibility for Early On supports and services. Established conditions must be diagnosed by an appropriate health care or mental health provider and documented in a medical or other record (i.e., a Child Abuse Prevention and Treatment Act (CAPTA) referral that references a medical diagnosis). Conditions include but are not limited to, the following: 4.3. Abnormalities of Amino Acid 4.10. Hemoglobinopathies • Intraventricular Metabolism • Sickle cell disease hemorrhage (grades 3 & • Argininosuccinic • Thalassemia (major and 4) minor) aciduria/Citrullinemia 5.1.d. Degenerative Disorders • Homocystinuria 4.11 Abnormalities of the Thyroid • Acute disseminated • Infant Phenylketonuria Hormone encephalomyelitis (PKU) • Cockayne syndrome • Maple syrup urine disease • Congenital • Friedreich’s ataxia • Methylmalonic acidemia hypothyroidism • Gangliosidosis (MMA) 4.12. Peroxisomal Disorders • Leigh’s disease • Ornithine • Adrenoleukodystrophy • Leukodystrophy transcarbamylase (OTC) (ALD) • Schilder’s disease deficiency • Cerebrohepatorenal • Tay-Sachs disease 4.4. Abnormalities of syndrome (Zellweger 5.1.e. Neurocutaneous Disorders Carbohydrate Metabolism syndrome) • Ectodermal dysplasia • Galactosemia • Peroxisomal biogenesis • Incontinentia pigmenti • Glycogen storage disease disorders • Neurofibromatosis • Pompe disease • Rhizomelic chondrodysplasia • Sturge-Weber syndrome 4.5. Abnormalities of Lipid punctata • Tuberous sclerosis Metabolism • Xeroderma pigmentosa 5. Other Disorders/Diseases • Gaucher disease 5.1.f. Malignancies • Niemann-Pick disease 5.1. Neurological Disorders • Intracranial tumors and 4.6. Abnormalities of the 5.1.a Neuromotor/Muscle other malignancies of the Purine/Pyrimidine Metabolism Disorders central nervous system • Lesch Nyhan syndrome • Cerebral palsy 5.1.g. Head and Spinal Cord • Congenital myasthenia 4.7. Abnormalities of the Trauma • Kernicterus Parathyroid • Fracture of vertebral • Muscular dystrophies column with or without • Untreated • Paralysis spinal cord lesions hyperparathyroidism • Periventricular • Shaken baby syndrome • Untreated leukomalacia hypoparathyroidism • Traumatic brain injury • Spinal muscular atrophy 4.8. Abnormalities of the Pituitary • Torticollis 5.1.h. Hypoxic/Anoxic Brain Injury • Hyperpituitary 5.1.b. Cerebrovascular Disease • Hypopituitary • Hypoxic ischemic • Cerebral arterial encephalopathy (newborn thrombosis 4.9. Abnormalities of encephalopathy) • Cerebral embolus Adrenocortical Function • Near drowning • Congenital adrenal thrombosis hyperplasia • Cerebral venous 5.2. Vision Impairment • Hyperadrenocortical thrombosis • Amblyopia function 5.1.c. Brain Hemorrhages • Cortical visual impairment (CVI) • Hypoadrenocortical • Intracranial hemorrhage function • Low vision (20/70) • Nystagmus Wednesday, June 2, 2021 2 Note: The Endocrine/Metabolic Disorders Category also includes all disorders tested for in the Michigan Newborn Screening Program. Early On® Michigan Established Conditions Established conditions indicate automatic eligibility for Early On supports and services. Established conditions must be diagnosed by an appropriate health care or mental health provider and documented in a medical or other record (i.e., a Child Abuse Prevention and Treatment Act (CAPTA) referral that references a medical diagnosis). Conditions include but are not limited to, the following: • Retinopathy of 9. Chronic Illness • Diagnosed regulatory prematurity (ROP) disorders 9.1. Medically Fragile (stage 3 - stage 5) • Disorders of affect • Visual field loss • Renal insufficiency • Maltreatment/deprivation disorder 6. Hearing Deficiency 9.2. Medical Illness • Bronchopulmonary • Mixed disorders of • Auditory neuropathy emotional expressiveness • Bilateral or unilateral dysplasia • Cancer • Post-traumatic stress hearing loss of ≥ 25 dB at disorder (PTSD) 2+ frequencies between • Chronic hepatitis 500-4000 Hz • Connective tissue • Mixed hearing loss disorders • Permanent conductive • Cystic fibrosis hearing loss • Diabetes • Sensorineural hearing loss • Immune disorders (ex. • Waardenburg syndrome juvenile arthritis) • Failure to thrive 7. Other Fetal/Placental • Renal failure Anomalies • Very low birth weight • Twin to twin transfusion (<1500 grams or 3.3 lbs.) syndrome • Chronic asthma – • Umbilical cord prolapse moderate to severe • Intrauterine growth 8. Exposures Affecting restriction (IUGR) Fetus/Child • Small for gestational age 8.1. Prenatal (<10% weight for age) • Fetal alcohol exposure (SGA) • Fetal drug exposure 10. Developmental Delay • Diagnosed maternal phenylketonuria (PKU) 10.1. Pervasive Developmental Disorders 8.2. Postnatal • Autism spectrum disorder • Lead – venous blood lead • Childhood disintegrative level at or above disorder reference value recommended by the CDC 10.2. Rett Syndrome (currently 5 µg/dL)* 10.3. Regulatory Disorders of • Following CDC Sensory Processing recommendations for • Hyposensitive/ mercury and other hypersensitive neurotoxic chemicals • Sensory seeking/ diagnosed at elevated impulsive exposure levels 11. Mental Health Conditions • Adjustment disorders *MDHHS rounds values 4.5 or • Depression of infancy and greater to 5 µg/dL early childhood Wednesday, June 2, 2021 3 Note: The Endocrine/Metabolic Disorders Category also includes all disorders tested for in the Michigan Newborn Screening Program. .
Load more

Recommended publications
  • Cystinosis, Has Been Reported Previomly in 3 Patients Using (1
    , PKU GENE - WSSIBLE CAUSE OF NON-SPECIFIC UENTAL RE- RARE PHENOTYPES OF PLACENTAL ALKALINE PHOSPHATASE: AN 523 TARDATION. Atsuko Fujimoto and Samuel P. Bes-n, ANALYSIS OF RELATIONSHIPS WITH SOME NEONATAL AND b USC Hed. Sch., Dept. Pediatrics, Los Angeles MATERNAL VARIABLES. F. Gloria-Bottini, A. Polzonetti, The Justification Hypothesis (J. Ped. 81:834, 1972) proposes . Bentivoglia, P. Lucarelli and E. Bottini (Spon. by C.D. Cook). that deficiencies in non-essential amino acids might cause mental Jniv. of Camerino, Dept. of Genetics and Computer Center and retardation. The mother heterozygous for synthesis of any one of Jniv. of Rome, Dept. of Pediatrics. the non-essential amino acids would deprive her fetus partially The large number (>15) and frequency (-2%) of rare placental and the heterozygous or homozygous fetus would be more or less alkaline phosphatase (PI) alleles represent a very special case unable to make up for the deficiency. Berman and Ford (Lancet i: among polymorphic enzymes. Since the PI gene is active only dur- 767, 1977) showed that such concatenation of heterozygous mother ing intrauterine life, the allelic diversity and its maintenance and heterozygous fetus is associated with significantly lower IQ. nay be connected with intrauterine environment and with fetal Our own wark has verified this finding. The possibility that development. 1700 newborn infants ( 1271 Caucasians, 337 Negroes heterozygosity for PKU in mother and fetus might be a cause of a and 92 Puerto Ricans), collected at Yale-New Haven Hospital from 1arq.e amount of "non-specific" mental retardation was tested by 1968-1971, were studied. An analysis of the relationship between looking for associated heterozygosity for PKU in mother and child rare PI phenotype and the following 14variableswas carried out: among.12 families in a genetic clinic.
    [Show full text]
  • Effect of Propionic Acid on Fatty Acid Oxidation and U Reagenesis
    Pediat. Res. 10: 683- 686 (1976) Fatty degeneration propionic acid hyperammonemia propionic acidemia liver ureagenesls Effect of Propionic Acid on Fatty Acid Oxidation and U reagenesis ALLEN M. GLASGOW(23) AND H. PET ER C HASE UniversilY of Colorado Medical Celller, B. F. SlOlillsky LaboralOries , Denver, Colorado, USA Extract phosphate-buffered salin e, harvested with a brief treatment wi th tryps in- EDTA, washed twice with ph os ph ate-buffered saline, and Propionic acid significantly inhibited "CO z production from then suspended in ph os ph ate-buffe red saline (145 m M N a, 4.15 [I-"ejpalmitate at a concentration of 10 11 M in control fibroblasts m M K, 140 m M c/, 9.36 m M PO" pH 7.4) . I n mos t cases the cells and 100 11M in methyl malonic fibroblasts. This inhibition was we re incubated in 3 ml phosph ate-bu ffered sa lin e cont aining 0.5 similar to that produced by 4-pentenoic acid. Methylmalonic acid I1Ci ll-I4Cj palm it ate (19), final concentration approximately 3 11M also inhibited ' 'C0 2 production from [V 'ejpalmitate, but only at a added in 10 II I hexane. Increasing the amount of hexane to 100 II I concentration of I mM in control cells and 5 mM in methyl malonic did not impair palmit ate ox id ation. In two experiments (Fig. 3) the cells. fibroblasts were in cub ated in 3 ml calcium-free Krebs-Ringer Propionic acid (5 mM) also inhibited ureagenesis in rat liver phosphate buffer (2) co nt ain in g 5 g/ 100 ml essent iall y fatty ac id slices when ammonia was the substrate but not with aspartate and free bovine se rum albumin (20), I mM pa lm itate, and the same citrulline as substrates.
    [Show full text]
  • Incidence of Inborn Errors of Metabolism by Expanded Newborn
    Original Article Journal of Inborn Errors of Metabolism & Screening 2016, Volume 4: 1–8 Incidence of Inborn Errors of Metabolism ª The Author(s) 2016 DOI: 10.1177/2326409816669027 by Expanded Newborn Screening iem.sagepub.com in a Mexican Hospital Consuelo Cantu´-Reyna, MD1,2, Luis Manuel Zepeda, MD1,2, Rene´ Montemayor, MD3, Santiago Benavides, MD3, Hector´ Javier Gonza´lez, MD3, Mercedes Va´zquez-Cantu´,BS1,4, and Hector´ Cruz-Camino, BS1,5 Abstract Newborn screening for the detection of inborn errors of metabolism (IEM), endocrinopathies, hemoglobinopathies, and other disorders is a public health initiative aimed at identifying specific diseases in a timely manner. Mexico initiated newborn screening in 1973, but the national incidence of this group of diseases is unknown or uncertain due to the lack of large sample sizes of expanded newborn screening (ENS) programs and lack of related publications. The incidence of a specific group of IEM, endocrinopathies, hemoglobinopathies, and other disorders in newborns was obtained from a Mexican hospital. These newborns were part of a comprehensive ENS program at Ginequito (a private hospital in Mexico), from January 2012 to August 2014. The retrospective study included the examination of 10 000 newborns’ results obtained from the ENS program (comprising the possible detection of more than 50 screened disorders). The findings were the following: 34 newborns were confirmed with an IEM, endocrinopathies, hemoglobinopathies, or other disorders and 68 were identified as carriers. Consequently, the estimated global incidence for those disorders was 3.4 in 1000 newborns; and the carrier prevalence was 6.8 in 1000. Moreover, a 0.04% false-positive rate was unveiled as soon as diagnostic testing revealed negative results.
    [Show full text]
  • Circle Applicable Codes
    IDENTIFYING INFORMATION (please print legibly) Individual’s Name: DOB: Last 4 Digits of Social Security #: CIRCLE APPLICABLE CODES ICD-10 ICD-10 ICD-9 DIAGNOSTIC ICD-9 DIAGNOSTIC PRIMARY ICD-9 CODES CODE CODE PRIMARY ICD-9 CODES CODE CODE Abetalipoproteinemia 272.5 E78.6 Hallervorden-Spatz Syndrome 333.0 G23.0 Acrocephalosyndactyly (Apert’s Syndrome) 755.55 Q87.0 Head Injury, unspecified – Age of onset: 959.01 S09.90XA Adrenaleukodystrophy 277.86 E71.529 Hemiplegia, unspecified 342.9 G81.90 Arginase Deficiency 270.6 E72.21 Holoprosencephaly 742.2 Q04.2 Agenesis of the Corpus Callosum 742.2 Q04.3 Homocystinuria 270.4 E72.11 Agenesis of Septum Pellucidum 742.2 Q04.3 Huntington’s Chorea 333.4 G10 Argyria/Pachygyria/Microgyria 742.2 Q04.3 Hurler’s Syndrome 277.5 E76.01 or 758.33 Aicardi Syndrome 333 G23.8 Hyperammonemia Syndrome 270.6 E72.4 Alcohol Embryo and Fetopathy 760.71 F84.5 I-Cell Disease 272.2 E77.0 Anencephaly 655.0 Q00.0 Idiopathic Torsion Dystonia 333.6 G24.1 Angelman Syndrome 759.89 Q93.5 Incontinentia Pigmenti 757.33 Q82.3 Asperger Syndrome 299.8 F84.5 Infantile Cerebral Palsy, unspecified 343.9 G80.9 Ataxia-Telangiectasia 334.8 G11.3 Intractable Seizure Disorder 345.1 G40.309 Autistic Disorder (Childhood Autism, Infantile 299.0 F84.0 Klinefelter’s Syndrome 758.7 Q98.4 Psychosis, Kanner’s Syndrome) Biotinidase Deficiency 277.6 D84.1 Krabbe Disease 333.0 E75.23 Canavan Disease 330.0 E75.29 Kugelberg-Welander Disease 335.11 G12.1 Carpenter Syndrome 759.89 Q87.0 Larsen’s Syndrome 755.8 Q74.8 Cerebral Palsy, unspecified 343.69 G80.9
    [Show full text]
  • 2018 Etiologies by Frequencies
    2018 Etiologies in Order of Frequency by Category Hereditary Syndromes and Disorders Count CHARGE Syndrome 958 Down syndrome (Trisomy 21 syndrome) 308 Usher I syndrome 252 Stickler syndrome 130 Dandy Walker syndrome 119 Cornelia de Lange 102 Goldenhar syndrome 98 Usher II syndrome 83 Wolf-Hirschhorn syndrome (Trisomy 4p) 68 Trisomy 13 (Trisomy 13-15, Patau syndrome) 60 Pierre-Robin syndrome 57 Moebius syndrome 55 Trisomy 18 (Edwards syndrome) 52 Norrie disease 38 Leber congenital amaurosis 35 Chromosome 18, Ring 18 31 Aicardi syndrome 29 Alstrom syndrome 27 Pfieffer syndrome 27 Treacher Collins syndrome 27 Waardenburg syndrome 27 Marshall syndrome 25 Refsum syndrome 21 Cri du chat syndrome (Chromosome 5p- synd) 16 Bardet-Biedl syndrome (Laurence Moon-Biedl) 15 Hurler syndrome (MPS I-H) 15 Crouzon syndrome (Craniofacial Dysotosis) 13 NF1 - Neurofibromatosis (von Recklinghausen dis) 13 Kniest Dysplasia 12 Turner syndrome 11 Usher III syndrome 10 Cockayne syndrome 9 Apert syndrome/Acrocephalosyndactyly, Type 1 8 Leigh Disease 8 Alport syndrome 6 Monosomy 10p 6 NF2 - Bilateral Acoustic Neurofibromatosis 6 Batten disease 5 Kearns-Sayre syndrome 5 Klippel-Feil sequence 5 Hereditary Syndromes and Disorders Count Prader-Willi 5 Sturge-Weber syndrome 5 Marfan syndrome 3 Hand-Schuller-Christian (Histiocytosis X) 2 Hunter Syndrome (MPS II) 2 Maroteaux-Lamy syndrome (MPS VI) 2 Morquio syndrome (MPS IV-B) 2 Optico-Cochleo-Dentate Degeneration 2 Smith-Lemli-Opitz (SLO) syndrome 2 Wildervanck syndrome 2 Herpes-Zoster (or Hunt) 1 Vogt-Koyanagi-Harada
    [Show full text]
  • Novel Insights Into the Pathophysiology of Kidney Disease in Methylmalonic Aciduria
    Zurich Open Repository and Archive University of Zurich Main Library Strickhofstrasse 39 CH-8057 Zurich www.zora.uzh.ch Year: 2017 Novel Insights into the Pathophysiology of Kidney Disease in Methylmalonic Aciduria Schumann, Anke Posted at the Zurich Open Repository and Archive, University of Zurich ZORA URL: https://doi.org/10.5167/uzh-148531 Dissertation Published Version Originally published at: Schumann, Anke. Novel Insights into the Pathophysiology of Kidney Disease in Methylmalonic Aciduria. 2017, University of Zurich, Faculty of Medicine. Novel Insights into the Pathophysiology of Kidney Disease in Methylmalonic Aciduria Dissertation zur Erlangung der naturwissenschaftlichen Doktorwürde (Dr. sc. nat.) vorgelegt der Mathematisch-naturwissenschaftlichen Fakultät der Universität Zürich von Anke Schumann aus Deutschland Promotionskommission Prof. Dr. Olivier Devuyst (Vorsitz und Leitung der Dissertation) Prof. Dr. Matthias R. Baumgartner Prof. Dr. Stefan Kölker Zürich, 2017 DECLARATION I hereby declare that the presented work and results are the product of my own work. Contributions of others or sources used for explanations are acknowledged and cited as such. This work was carried out in Zurich under the supervision of Prof. Dr. O. Devuyst and Prof. Dr. M.R. Baumgartner from August 2012 to August 2016. Peer-reviewed publications presented in this work: Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR. Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up. Mol Genet Metab. 2013 Dec;110(4):472-6. doi: 10.1016/j.ymgme.2013.08.021. Epub 2013 Sep 17. Schumann A, Luciani A, Berquez M, Tokonami N, Debaix H, Forny P, Kölker S, Diomedi Camassei F, CB, MK, Faresse N, Hall A, Ziegler U, Baumgartner M and Devuyst O.
    [Show full text]
  • Cerebral Palsy with Dislocated Hip and Scoliosis: What to Deal with First?
    Current Concepts Review Cerebral palsy with dislocated hip and scoliosis: what to deal with first? Ilkka J. Helenius1 Cite this article: Helenius IJ, Viehweger E, Castelein RM. Cer- Elke Viehweger2 ebral palsy with dislocated hip and scoliosis: what to deal Rene M. Castelein3 with first?J Child Orthop 2020;14: 24-29. DOI: 10.1302/1863- 2548.14.190099 Abstract Keywords: cerebral palsy; hip dislocation; neuromuscular Purpose Hip dislocation and scoliosis are common in children scoliosis; CP surveillance; hip reconstruction; spinal fusion with cerebral palsy (CP). Hip dislocation develops in 15% and surgery 20% of children with CP, mainly between three and six years of age and especially in the spastic and dyskinetic subtypes. The risk of scoliosis increases with age and increasing disabili- Introduction ty as expressed by the Gross Motor Function Score. Hip dislocation develops in 15% and 20% of children with Methods A hip surveillance programme and early surgical cerebral palsy (CP), mainly between three and six years 1 treatment have been shown to reduce the hip dislocation, of age, and especially in the spastic dyskinetic subtypes. but it remains unclear if a similar programme could reduce Children with Gross Motor Function Classification System the need for neuromuscular scoliosis. When hip dislocation (GMFCS) level V demonstrate an incidence of hip dis- 2 and neuromuscular scoliosis are co-existent, there appears to placement up to 90%. The risk of scoliosis increases with 3 be no clear guidelines as to which of these deformities should age and increasing disability (increasing GMFCS level). be addressed first: hip or spine. The risk of scoliosis is 1% for GMFCS level I at ten years of age and 5% at 20 years, but 30% for GMFCS V at ten Results Hip dislocation or windswept deformity may cause years and 80% at 20 years.
    [Show full text]
  • What Disorders Are Screened for by the Newborn Screen?
    What disorders are screened for by the newborn screen? Endocrine Disorders The endocrine system is important to regulate the hormones in our bodies. Hormones are special signals sent to various parts of the body. They control many things such as growth and development. The goal of newborn screening is to identify these babies early so that treatment can be started to keep them healthy. To learn more about these specific disorders please click on the name of the disorder below: English: Congenital Adrenal Hyperplasia Esapnol Hiperplasia Suprarrenal Congenital - - http://www.newbornscreening.info/Parents/otherdisorders/CAH.html - http://www.newbornscreening.info/spanish/parent/Other_disorder/CAH.html - Congenital Hypothyroidism (Hipotiroidismo Congénito) - http://www.newbornscreening.info/Parents/otherdisorders/CH.html - http://www.newbornscreening.info/spanish/parent/Other_disorder/CH.html Hematologic Conditions Hemoglobin is a special part of our red blood cells. It is important for carrying oxygen to the parts of the body where it is needed. When people have problems with their hemoglobin they can have intense pain, and they often get sick more than other children. Over time, the lack of oxygen to the body can cause damage to the organs. The goal of newborn screening is to identify babies with these conditions so that they can get early treatment to help keep them healthy. To learn more about these specific disorders click here (XXX). - Sickle Cell Anemia (Anemia de Célula Falciforme) - http://www.newbornscreening.info/Parents/otherdisorders/SCD.html - http://www.newbornscreening.info/spanish/parent/Other_disorder/SCD.html - SC Disease (See Previous Link) - Sickle Beta Thalassemia (See Previous Link) Enzyme Deficiencies Enzymes are special proteins in our body that allow for chemical reactions to take place.
    [Show full text]
  • Spondylolisthesis, with Description of a Case
    [Reprinted from the Transactions of the American Orthopedic Association, 1897.] SPONDYLOLISTHESIS, WITH DESCRIPTION OP A CASE. ROBERT W. LOVETT, M.D., BOSTON. The name spondylolisthesis (ottovoo/loc, a vertebra, and bhadrjat c, a gliding) refers to a forward subluxation of the body of one of the lower lumbar vertebrae, with the exception of one recorded case where the upper part of the sacrum was displaced forward. This displacement has ordinarily been described as a dislocation ; in most instances it hardly reaches a greater degree than may be described by the name subluxation. Even this name is incorrect anatomic- ally. This is because the body of the vertebra is chiefly affected, while the laminae and spinous process remain practically in place. The condition has attracted attention chiefly from the obstetrical point of view, on account of the secondary pelvic changes produced, and surgical literature contains next to nothing about it. Fr. Neugebauer, 1 of Warsaw, has so thoroughly investigated and elab- orated the subject that whoever strives to elucidate it from any point of view must do so largely by quotations from his extensive writings. In 1854, when this condition was recognized and named by Killian, 2 there were described only four known anatomical speci- mens. In 1890, when Neugebauer’s treatise was written, there were one hundred and one clinical and anatomical observations. Blake, 3 Gibuey, 4 and Lombard 5 contributed the only recorded American observations. Between the publication of Neugebauer’s classic in 1892, which was written in 1890, and to-day there have been reported, so far as I could find, twenty-four more cases (two in men).
    [Show full text]
  • Diseases of the Digestive System (KOO-K93)
    CHAPTER XI Diseases of the digestive system (KOO-K93) Diseases of oral cavity, salivary glands and jaws (KOO-K14) lijell Diseases of pulp and periapical tissues 1m Dentofacial anomalies [including malocclusion] Excludes: hemifacial atrophy or hypertrophy (Q67.4) K07 .0 Major anomalies of jaw size Hyperplasia, hypoplasia: • mandibular • maxillary Macrognathism (mandibular)(maxillary) Micrognathism (mandibular)( maxillary) Excludes: acromegaly (E22.0) Robin's syndrome (087.07) K07 .1 Anomalies of jaw-cranial base relationship Asymmetry of jaw Prognathism (mandibular)( maxillary) Retrognathism (mandibular)(maxillary) K07.2 Anomalies of dental arch relationship Cross bite (anterior)(posterior) Dis to-occlusion Mesio-occlusion Midline deviation of dental arch Openbite (anterior )(posterior) Overbite (excessive): • deep • horizontal • vertical Overjet Posterior lingual occlusion of mandibular teeth 289 ICO-N A K07.3 Anomalies of tooth position Crowding Diastema Displacement of tooth or teeth Rotation Spacing, abnormal Transposition Impacted or embedded teeth with abnormal position of such teeth or adjacent teeth K07.4 Malocclusion, unspecified K07.5 Dentofacial functional abnormalities Abnormal jaw closure Malocclusion due to: • abnormal swallowing • mouth breathing • tongue, lip or finger habits K07.6 Temporomandibular joint disorders Costen's complex or syndrome Derangement of temporomandibular joint Snapping jaw Temporomandibular joint-pain-dysfunction syndrome Excludes: current temporomandibular joint: • dislocation (S03.0) • strain (S03.4) K07.8 Other dentofacial anomalies K07.9 Dentofacial anomaly, unspecified 1m Stomatitis and related lesions K12.0 Recurrent oral aphthae Aphthous stomatitis (major)(minor) Bednar's aphthae Periadenitis mucosa necrotica recurrens Recurrent aphthous ulcer Stomatitis herpetiformis 290 DISEASES OF THE DIGESTIVE SYSTEM Diseases of oesophagus, stomach and duodenum (K20-K31) Ill Oesophagitis Abscess of oesophagus Oesophagitis: • NOS • chemical • peptic Use additional external cause code (Chapter XX), if desired, to identify cause.
    [Show full text]
  • Treatment and Outcomes of Arthrogryposis in the Lower Extremity
    Received: 25 June 2019 Revised: 31 July 2019 Accepted: 1 August 2019 DOI: 10.1002/ajmg.c.31734 RESEARCH ARTICLE Treatment and outcomes of arthrogryposis in the lower extremity Reggie C. Hamdy1,2 | Harold van Bosse3 | Haluk Altiok4 | Khaled Abu-Dalu5 | Pavel Kotlarsky5 | Alicja Fafara6,7 | Mark Eidelman5 1Shriners Hospitals for Children, Montreal, Québec, Canada Abstract 2Department of Pediatric Orthopaedic In this multiauthored article, the management of lower limb deformities in children Surgery, Faculty of Medicine, McGill with arthrogryposis (specifically Amyoplasia) is discussed. Separate sections address University, Montreal, Québec, Canada 3Shriners Hospitals for Children, Philadelphia, various hip, knee, foot, and ankle issues as well as orthotic treatment and functional Pennsylvania outcomes. The importance of very early and aggressive management of these defor- 4 Shriners Hospitals for Children, Chicago, mities in the form of intensive physiotherapy (with its various modalities) and bracing Illinois is emphasized. Surgical techniques commonly used in the management of these con- 5Pediatric Orthopedics, Technion Faculty of Medicine, Ruth Children's Hospital, Haifa, ditions are outlined. The central role of a multidisciplinary approach involving all Israel stakeholders, especially the families, is also discussed. Furthermore, the key role of 6Faculty of Health Science, Institute of Physiotherapy, Jagiellonian University Medical functional outcome tools, specifically patient reported outcomes, in the continuous College, Krakow, Poland monitoring and evaluation of these deformities is addressed. Children with 7 Arthrogryposis Treatment Centre, University arthrogryposis present multiple problems that necessitate a multidisciplinary Children's Hospital, Krakow, Poland approach. Specific guidelines are necessary in order to inform patients, families, and Correspondence health care givers on the best approach to address these complex conditions Reggie C.
    [Show full text]
  • The Orthopaedic Management of Arthrogryposis Multiplex Congenita
    Current Concept Review The Orthopaedic Management of Arthrogryposis Multiplex Congenita Harold J. P. van Bosse, MD and Dan A. Zlotolow, MD Shriners Hospital for Children, Philadelphia, PA Abstract: Arthrogryposis multiplex congenita (AMC) describes a baby born with multiple joint contractures that results from fetal akinesia with at least 400 different causes. The most common forms of AMC are amyoplasia (classic ar- throgryposis) and the distal arthrogryposes. Over the past two decades, the orthopaedic treatment of children with AMC has evolved with a better appreciation of the natural history. Most adults with arthrogryposis are ambulatory, but less than half are fully independent in self-care and most are limited by upper extremity dysfunction. Chronic and epi- sodic pain in adulthood—particularly of the foot and back—is frequent, limiting both ambulation and standing. To improve upon the natural history, upper extremity treatments have advanced to improve elbow motion and wrist and thumb positioning. Attempts to improve the ambulatory ability and decrease future pain include correction of hip and knee contractures and emphasizing casting treatments of foot deformities. Pediatric patients with arthrogryposis re- quire a careful evaluation, with both a physical examination and an assessment of needs to direct their treatment. Fur- ther outcomes studies are needed to continue to refine procedures and define the appropriate candidates. Key Concepts: • Arthrogryposis multiplex congenita (AMC) is a term that describes a baby born with multiple joint contractures. Amyoplasia is the most common form of AMC, accounting for one-third to one-half of all cases, with the distal arthrogryposes as the second largest AMC type.
    [Show full text]