DOCSLIB.ORG

The Pathogenesis of Microcephaly Resulting from Congenital Infections: Why Is My Baby’S Head So Small?

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
The Pathogenesis of Microcephaly Resulting from Congenital Infections: Why Is My Baby’S Head So Small? Eur J Clin Microbiol Infect Dis DOI 10.1007/s10096-017-3111-8 REVIEW The pathogenesis of microcephaly resulting from congenital infections: why is my baby’s head so small? L. D. Frenkel1,2 & F. Gomez3 & F. Sabahi 4 Received: 29 August 2017 /Accepted: 17 September 2017 # Springer-Verlag GmbH Germany 2017 Abstract The emergence of Zika-virus-associated congenital review, we integrate all these findings to create a unified hy- microcephaly has engendered renewed interest in the patho- pothesis of the pathogenesis of congenital microcephaly in- genesis of microcephaly induced by infectious agents. Three duced by these infectious agents. of the original “TORCH” agents are associated with an appre- ciable incidence of congenital microcephaly: cytomegalovi- rus, rubella virus, and Toxoplasma gondii. The pathology of Introduction congenital microcephaly is characterized by neurotropic infec- tious agents that involve the fetal nervous system, leading to Microcephaly has become an issue of increased interest since brain destruction with calcifications, microcephaly, sensori- the recognition that it is a consequential manifestation of con- neural hearing loss, and ophthalmologic abnormalities. The genital Zika virus infection [1–3]. Microcephaly is generally inflammatory reaction induced by these four agents has an defined as a head circumference ≤ 2 standard deviations below important role in pathogenesis. The potential role of “strain the mean for gestational age [4]. Zika virus associated micro- differences” in pathogenesis of microcephaly by these four cephaly and other clinical manifestations of vertical transmis- pathogens is examined. Specific epidemiologic factors, such sion from mother to fetus during gestation are similar to those as first and early second trimester maternal infection, and the caused by three of the original “TORCH” agents (Toxoplasma manifestations of congenital infection in the infant, shed some gondii, rubella virus, and cytomegalovirus) [3, 5–7]. Most light on the pathogenesis. Immune aspects of normal pregnan- microcephaly associated with congenital Zika virus infection cy and their role in congenital infections is examined. In this and with other congenital infections (Tables 1 and 2)isa reflection of neurotropism for fetal central nervous system Lawrence D. Frenkel, Fernando Gomez and Farzaneh Sabahi contributed (CNS) cells [6], with massive destruction of neural tissue dur- equally to this work. ing the early development of the CNS of the fetus, which predominantly occurs during the first and early second trimes- * L. D. Frenkel ters of pregnancy [3, 8, 38, 39]. This neural tissue destruction [email protected] is most frequently associated with congenital cytomegalovirus (CMV), rubella virus, Toxoplasma gondii, and Zika virus in- 1 Departments of Pediatrics and Microbiology, University of Illinois fections, and less commonly with other pathogens. CNS man- College of Medicine, Rockford, IL, USA ifestations are often associated with other manifestations in- 2 Department of Pediatrics, Division of Immunology, Allergy, and cluding intrauterine growth retardation (IUGR) [10, 19, 40], Infectious Disease, The Children’s Hospital at Saint Peter’s ophthalmologic anomalies [29, 41, 42] (including University Hospital, New Brunswick, NJ, USA microphthalmia) [43], neuro-developmental abnormalities, 3 Department of Specialty Medicine, Rocky Vista University School of and sensorineural hearing loss [4, 10, 20]. It is important to Osteopathic Medicine, Parker, CO, USA recognize clinical manifestations associated with congenital 4 Department of Virology, Faculty of Basic Medical Sciences, Tarbiat infection, other than microcephaly, such as seizures, sensori- Modares University, Tehran, Iran neural hearing loss, and ophthalmologic abnormalities. Prompt diagnosis and treatment of the above-noted Eur J Clin Microbiol Infect Dis Table 1 Comparison of major pathogens associated with congenital microcephaly Microorganism Risk of symptomatic CNS manifestations Mode of transmission Vaccine availability References congenital infectiona (%) at birthb (%) Zika virus 8–10 80c Mosquito and sexual In clinical trials [8, 9] Cytomegalovirus 1–15 10–50 Sexual and oral In clinical trials [10–14] Rubella virus 20–50 10–20 Respiratory Available [3, 15, 16] Toxoplasma gondii 10–20 5–10 Ingestion None available [17, 18] a Presenting at birth with primary maternal infection b Microcephaly or structural defects of the CNS c As demonstrated on neuroimaging manifestations, including “silent” seizures (not apparent on Among the pregnancies with positive laboratory evidence of observation and diagnosed on electroencephalogram), and ap- maternal infection, possible Zika virus-associated birth defects propriate medical intervention for other manifestations of were reported in 8%, 5%, and 4% during the first, second, and symptomatic congenital infection may improve the quality third trimester infections respectively [9]. of life and preserve function [8, 44]. Most infections with this virus are transmitted by the bite of an Aedes mosquito [47, 48]. It is less frequently transmitted sexually [49, 50]. The full appreciation of the Zika virus epi- The pathogens demic in the Americas was delayed and complicated because its clinical manifestations in adults are similar to those caused by Zika virus dengue and chikungunya viruses; the three viruses can cross- react serologically, and 80% of maternal infections are asymp- The epidemiology of Zika virus infection was recently tomatic [45, 51]. The major manifestations of symptomatic Zika reviewed by Calvet, et al. [45]. Serologic studies of the Yap virus infection in adults include macular or papular rash, pruri- Island epidemic suggested that the attack rate of individuals tus, headache, arthralgia, myalgia, non-purulent conjunctivitis, living on the island was above 70%, with less than 20% of the and low-grade fever [19, 45, 46]. The association of Zika virus inhabitants having symptomatic disease [46]. However, a re- infection with Guillain–Barré syndrome is likely, but the mech- cent review of Zika virus pregnancy registry data [8]reported anism remains to be further defined [52, 53]. that only 38% of the pregnant women were asymptomatic and Estimates suggest that as many as 10% of pregnant women 61% were symptomatic. The incidence of birth defects was with acute Zika virus infection deliver infants with serious similar in symptomatic and asymptomatic pregnant women. congenital anomalies, usually including microcephaly [8, 19, Table 2 Microcephaly-associated pathogens: shared reported findings* Zika virus CMV Rubella virus T. gondii Microcephaly† ++++ IUGR† ++++ CNS calcifications† ++++ Sensorineural hearing loss† ++++ Chorioretinal inflammation†, atrophy, or scars ++++ Hydrocephalus, hydranencephaly or ventriculomegaly ++– + Malformed gyri +++– Cortical dysplasia ++–– Cerebellar hypoplasia or aplasia ++–– Encephalitis or meningoencephalitis ++++ Microphthalmia ++++ Optic nerve atrophy ++++ Cataracts + – ++ Hepatic dysfunction – ++ + Organism details Flavivirus (ss + RNA) Herpesvirus (dsDNA) Togavirus (ss + RNA) Protozoan (intracellular) References [4, 19–28][29–32][29–34][29–31, 35–37] * Differences are discussed elsewhere in this article † classic findings for TORCH syndrome agents Eur J Clin Microbiol Infect Dis 54, 55] and other signs of severe CNS damage (developmental the first or second trimesters of pregnancy rather than the third delay, seizures, spasticity, and arthrogryposis) [7, 56], eye ab- trimester, there appears to be a greater chance of more severe normalities (cataracts, microphthalmia, and chorioretinitis) congenital CMV infection [10]. Maternal CMV infection is as- [21, 42], and intrauterine growth retardation [7, 21, 22, 48]. sociated with a 30% chance of congenital infection and as much In one study, 7% of these congenitally infected infants with as a 15% chance of clinically apparent manifestations at birth microcephaly had sensorineural hearing loss [4]. Currently (symptomatic congenital CMV), with up to 50% of these infants available data suggest that the incidence of symptomatic or manifesting microcephaly [11, 12, 14, 64]. asymptomatic congenital infection is similar with symptom- Unlike the usual case for rubella virus [65], and probably for atic or asymptomatic maternal infection [8, 9]. Zika virus infections, congenital CMV infection occurs in in- Thirteen infants with evidence of central nervous system fants born both to women who are seronegative or who are damage on neuro-imaging, but without microcephaly at birth, seropositive prior to pregnancy [12, 64]. This is believed to born to mothers with documented Zika virus infection (none represent recurrent (reactivation of latent virus) or reinfection during the third trimester), have been described [57]. Two (superinfection with a new strain) of CMV in the pregnant host others, born to mothers with Zika virus infection during the third [12]. The frequency of transmission of CMV from mother to trimester, have also been described [58]. Data from infants born fetus when the mother was seropositive prior to pregnancy is with normal head size and laboratory evidence (quantitative estimatedtobe1%[12]. The rate of transmission of CMV from polymerase chain reaction, IgM capture enzyme-linked immu- mothers who were CMV seropositive and the severity of clinical nosorbent assay) of congenital Zika virus infection at birth, re- manifestations seem to be similar to those for CMV seronega- vealed that microcephaly developed after
Load more

Recommended publications
  • A Anencephaly
    Glossary of Birth Anomaly Terms: A Anencephaly: A deadly birth anomaly where most of the brain and skull did not form. Anomaly: Any part of the body or chromosomes that has an unusual or irregular structure. Aortic valve stenosis: The aortic valve controls the flow of blood from the left ventricle of the heart to the aorta, which takes the blood to the rest of the body. If there is stenosis of this valve, the valve has space for blood to flow through, but it is too narrow. Atresia: Lack of an opening where there should be one. Atrial septal defect: An opening in the wall (septum) that separates the left and right top chambers (atria) of the heart. A hole can vary in size and may close on its own or may require surgery. Atrioventricular septal defect (endocardial cushion defect): A defect in both the lower portion of the atrial septum and the upper portion of the ventricular septum. Together, these defects make a large opening (canal) in the middle part of the heart. Aniridia (an-i-rid-e-a): An eye anomaly where the colored part of the eye (called the iris) is partly or totally missing. It usually affects both eyes. Other parts of the eye can also be formed incorrectly. The effects on children’s ability to see can range from mild problems to blindness. To learn more about aniridia, go to the U.S. National Library of Medicine website. Anophthalmia/microphthalmia (an-oph-thal-mia/mi-croph-thal-mia): Birth anomalies of the eyes. In anophthalmia, a baby is born without one or both eyes.
    [Show full text]
  • Supratentorial Brain Malformations
    Supratentorial Brain Malformations Edward Yang, MD PhD Department of Radiology Boston Children’s Hospital 1 May 2015/ SPR 2015 Disclosures: Consultant, Corticometrics LLC Objectives 1) Review major steps in the morphogenesis of the supratentorial brain. 2) Categorize patterns of malformation that result from failure in these steps. 3) Discuss particular imaging features that assist in recognition of these malformations. 4) Reference some of the genetic bases for these malformations to be discussed in greater detail later in the session. Overview I. Schematic overview of brain development II. Abnormalities of hemispheric cleavage III. Commissural (Callosal) abnormalities IV. Migrational abnormalities - Gray matter heterotopia - Pachygyria/Lissencephaly - Focal cortical dysplasia - Transpial migration - Polymicrogyria V. Global abnormalities in size (proliferation) VI. Fetal Life and Myelination Considerations I. Schematic Overview of Brain Development Embryology Top Mid-sagittal Top Mid-sagittal Closed Neural Tube (4 weeks) Corpus Callosum Callosum Formation Genu ! Splenium Cerebral Hemisphere (11-20 weeks) Hemispheric Cleavage (4-6 weeks) Neuronal Migration Ventricular/Subventricular Zones Ventricle ! Cortex (8-24 weeks) Neuronal Precursor Generation (Proliferation) (6-16 weeks) Embryology From ten Donkelaar Clinical Neuroembryology 2010 4mo 6mo 8mo term II. Abnormalities of Hemispheric Cleavage Holoprosencephaly (HPE) Top Mid-sagittal Imaging features: Incomplete hemispheric separation + 1)1) No septum pellucidum in any HPEs Closed Neural
    [Show full text]
  • Prenatal Diagnosis, Phenotypic and Obstetric Characteristics of Holoprosencephaly
    Fetal Diagn Ther 2005;20:161–166 Received: August 6, 2003 DOI: 10.1159/000083897 Accepted after revision: January 15, 2004 Prenatal Diagnosis, Phenotypic and Obstetric Characteristics of Holoprosencephaly Ga´ bor J. Joo´ Artu´ r Beke Csaba Papp Erno˝To´ th-Pa´ l Zsanett Szigeti Zolta´nBa´ n Zolta´ n Papp Semmelweis University Medical School I., Department of Obstetrics and Gynecology, Budapest, Hungary Key Words Introduction Holoprosencephaly W Prenataldiagnosis W Patient’s history W Accompanying malformations In the early weeks of embryonic development, the brain consists of three parts: prosencephalon, mesenceph- alon, rhombencephalon. Between the time of neural tube Abstract closure and the 5th gestational week, the prosencephalon The diagnosis of fetal malformations, especially those of gives origin to telencephalon (cerebral hemispheres) and the central nervous system, is strikingly important in the diencephalon (thalamus and hypothalamus), the mesen- practice of genetic counseling. Early diagnosis is very cephalon forms the midbrain and rhombencephalon de- significant, not only because of the prognosis, but also velops into metencephalon (pons and cerebellum) and because of the emotional effects caused by the accompa- myelencephalon (medulla oblongata). At the time of the nying craniofacial malformations. The summary of the telencephalon/diencephalon differentiation, the prosen- obstetrical and diagnostical characteristics should be cephalon also splits longitudinally – the hemispheres de- useful in the management of holoprosencephaly. The velop on the lateral aspects of the longitudinal cerebral analysis of the 50 cases we encountered between 1981 fissure by progressive enlargement and hollowing of the and 2000, including the anatomical, diagnostic and clini- cerebral vesicles. Should the prechordal mesoderm fail to cal aspects, as well as the associated craniofacial malfor- migrate normally [1, 2], the prosencephalon remains un- mations, forms the essence of our publication.
    [Show full text]
  • Congenital Anomalies of the Nose
    133 Congenital Anomalies of the Nose Jamie L. Funamura, MD1 Travis T. Tollefson, MD, MPH, FACS2 1 Department of Otolaryngology and Communication Enhancement, Address for correspondence Travis T. Tollefson, MD, MPH, FACS, Facial Children’s Hospital Boston, Boston, Massachusetts Plastic and Reconstructive Surgery, Department of Otolaryngology- 2 Department of Otolaryngology, University of California, Davis, Head and Neck Surgery, University of California, Davis, 2521 Stockton Sacramento, California Blvd., Suite 7200, Sacramento, CA 95817 (e-mail: [email protected]). Facial Plast Surg 2016;32:133–141. Abstract Congenital anomalies of the nose range from complete aplasia of the nose to duplications and nasal masses. Nasal development is the result of a complex embryo- logic patterning and fusion of multiple primordial structures. Loss of signaling proteins or failure of migration or proliferation can result in structural anomalies with significant Keywords cosmetic and functional consequences. Congenital anomalies of the nose can be ► nasal deformities categorized into four broad categories: (1) aplastic or hypoplastic, (2) hyperplastic or ► nasal dermoid duplications, (3) clefts, and (4) nasal masses. Our knowledge of the embryologic origin ► Tessier cleft of these anomalies helps dictate subsequent work-up for associated conditions, and the ► nasal cleft appropriate treatment or surgical approach to manage newborns and children with ► nasal hemangioma these anomalies. – Congenital anomalies of the nose are thought to be relatively side1 4 (►Fig. 1A, B). The medial processes will ultimately fuse, rare, affecting approximately 1 in every 20,000 to 40,000 live contributing to the nasal septum and the medial crura of the births.1 The exact incidence is difficult to quantify, as minor lower lateral cartilages.
    [Show full text]
  • Chapter III: Case Definition
    NBDPN Guidelines for Conducting Birth Defects Surveillance rev. 06/04 Appendix 3.5 Case Inclusion Guidance for Potentially Zika-related Birth Defects Appendix 3.5 A3.5-1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance rev. 06/04 Appendix 3.5 Case Inclusion Guidance for Potentially Zika-related Birth Defects Contents Background ................................................................................................................................................. 1 Brain Abnormalities with and without Microcephaly ............................................................................. 2 Microcephaly ............................................................................................................................................................ 2 Intracranial Calcifications ......................................................................................................................................... 5 Cerebral / Cortical Atrophy ....................................................................................................................................... 7 Abnormal Cortical Gyral Patterns ............................................................................................................................. 9 Corpus Callosum Abnormalities ............................................................................................................................. 11 Cerebellar abnormalities ........................................................................................................................................
    [Show full text]
  • Hydranencephaly
    Kathmandu University Medical Journal (2010), Vol. 8, No. 1, Issue 29, 83-86 Case Note Hydranencephaly Pant S1, Kaur G2, JK De3 1Medical Offi cer, 2Associate Professor, 3Professor and Head, Department of Obstetrics and Gynaecology, Manipal College of Medical Sciences Abstract Hydranencephaly is a rare congenital condition where the greater portions of the cerebral hemispheres and the corpus striatum are replaced by cerebrospinal fl uid and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusion of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem refl exes without evidence of higher cortical activity. The infant’s head size and the spontaneous refl exes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal at birth. However, after a few weeks the infant usually becomes irritable and has increased muscle tone and after a few months of life, seizures and hydrocephalus (excessive accumulation of cerebrospinal fl uid in the brain) may develop. Other symptoms may include visual impairment, lack of growth, deafness, blindness, spastic quadriparesis (paralysis), and intellectual defi cits. Since the early behaviour appears to be relatively normal, the diagnosis may be delayed for months sometimes. There is no defi nitive treatment for hydranencephaly. The outlook for children with hydranencephaly is generally poor, and many children with this disorder die before their fi rst birthday. Key words: hydranencephaly, congenital anomaly, vascular disruption, thromboplastin, 19 years old, Gravida 2 Para 0 Abortion 1, presented HBV, blood sugars) were normal.
    [Show full text]
  • Plastic Surgery Considerations for Holoprosencephaly Patients
    Plastic Surgery Considerations for Holoprosencephaly Patients Jennifer M. Hendi, MPH* Robert Nemerofsky, MD* Cynthia Stolman, PhD† Mark S. Granick, MD* Newark, New Jersey Holoprosencephaly (HPE) is considered the lead- and upper lip, with normal or near-normal brain de- ing abnormality of the brain and face in humans velopment. Some data indicate that patients with less and is frequently associated with a wide spectrum severe manifestations of holoprosencephaly (i.e., of specific craniofacial anomalies including mid- semilobar and lobar) have survived into adulthood.3 line facial clefts, cyclopia and nasal irregularities. A A standard course of treatment of holoprosenceph- standard course of treatment has not been devel- aly has not been developed, and treatment is symp- oped and management is symptomatic and sup- tomatic and supportive. portive. In this work, the authors discuss the wide- Few guidelines have been described for surgical ranging spectrum of HPE and propose surgical candidates, resulting in conflicting recommendations guidelines to provide more uniform and appropri- as well as ethical and practical dilemmas for sur- ate care to patients suffering from holoprosenceph- geons. Given the prevalence and the wide-ranging manifestations of this disease, surgical guidelines aly. Assessment of the patient’s brain abnormality should be established to provide more uniform and is essential in determining the extent and benefit of appropriate care to patients suffering from holo- surgical intervention. The authors discuss a median prosencephaly. Assessment of the patient’s brain ab- straight-line repair of the lip and repair of the an- normality is essential in determining the extent and terior palate in a one-year old female and review benefit of surgical intervention.
    [Show full text]
  • Holoprosencephaly: a Family Showing Dominant
    36 6J Med Genet 1993; 30: 36-40 Holoprosencephaly: a family showing dominant inheritance and variable expression J Med Genet: first published as 10.1136/jmg.30.1.36 on 1 January 1993. Downloaded from Amanda L Collins, Peter W Lunt, Christine Garrett, Nicholas R Dennis Abstract discuss the minor manifestations in probable A family with probable dominant holo- and possible gene carriers. prosencephaly is presented with five affected subjects in two sibships, the offspring of healthy sisters who are pre- sumed gene carriers. Of the affected chil- Case reports dren, three had cebocephaly and died The pedigree is shown in fig 1. The family was shortly after birth. One had left choanal ascertained through subject II.2 who sought atresia, retinal coloboma, a single central genetic advice in 1978 when 14 weeks preg- maxillary incisor, microcephaly, short nant, prompted by the birth of an abnormal stature, and learning problems. Another child (III .10) to one of her two sisters; three of had only a single central maxillary inci- the four liveborn offspring of her other sister sor. The occurrence of hypotelorism, had already had craniofacial abnormalities. microcephaly, and unilateral cleft lip These four cases are now described. and palate as minor manifestations of the gene in possible and probable gene car- riers is discussed. Wessex Clinical CASE 1 Genetics Service, (J Med Genet 1993;30:36-40) A female infant (III.6) weighed 2700 g at 38 Princess Anne weeks' gestation. She had a single nostril and Hospital, Coxford both orbits were absent. Her skull transillumi- Road, Southampton results from impaired S09 4HA.
    [Show full text]
  • Hydranencephaly
    Pavone et al. Italian Journal of Pediatrics 2014, 40:79 http://www.ijponline.net/content/40/1/79 ITALIAN JOURNAL OF PEDIATRICS REVIEW Open Access Hydranencephaly: cerebral spinal fluid instead of cerebral mantles Piero Pavone1*, Andrea D Praticò1, Giovanna Vitaliti1, Martino Ruggieri2, Renata Rizzo3, Enrico Parano4, Lorenzo Pavone1, Giuseppe Pero5 and Raffaele Falsaperla1 Abstract The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected by this condition, still alive at 36 months. Hydranencephaly is an isolated and with a severe prognosis abnormality, affecting the cerebral mantle. In this condition, the cerebral hemispheres are completely or almost completely absent and are replaced by a membranous sac filled with cerebrospinal fluid. Midbrain is usually not involved. Hydranencephaly is a relatively rare cerebral disorder. Differential diagnosis is mainly relevant when considering severe hydrocephalus, poroencephalic cyst and alobar holoprosencephaly. Ethical questions related to the correct criteria for the surgical treatment are also discussed. Keywords: Hydranencephaly, Holoprosencephaly, Congenital anomaly, Brain malformation, Severe hydrocephalus Introduction often misdiagnosed due to the similarities of HE to disor- Hydranencephaly (HE) is a rare, mostly isolated abnormal- ders involving the cerebral mantle (Table 1). ity, which is reported to affect about 1 out 5000 continu- The aim of our review is to report on this condition, ing pregnancies [1,2]; an accurate incidence is difficult to utilizing data from the literature, and also presenting our determine, considering how similar this condition is to experience with a patient affected by the bilateral form of others and the limited diagnostic techniques that have HE, who is still alive at the age of 36 months.
    [Show full text]
  • Increasing Number of Unusual Brain Abnormalities Seen in Rural West Virginia
    Increasing number of unusual brain abnormalities seen in rural West Virginia Abstract The incidence rate of schizencephaly is 1.5 in 100,000 live births and the rate of holoprosencephaly is 1 in 16,000 live births. Both malformations are rare, but our institution has seen a dramatic increase in both malformations in recent years with no known cause. Schizencephaly is the most severe cortical malformation and holoprosencephaly is the most common defect in the prosencephalon during development. However, it is still not very common to see a fetus with this defect live to delivery. Our institution, a regional hospital in central Appalachia, has seen four cases of schizencephaly and three cases of holoprosencephaly within two years. No two neonates seem to share a common factor. All had different co-morbidities and presentations, all mothers were of different ages and showed few risk factors if any for these deformities. This paper is a report of the cases found of these rare birth defects seen at our institution in recent years. Keywords Neonate, Holoprosencephaly, Schizencephaly Introduction Our institution, a regional hospital in central Appalachia, has seen an unusual increase in brain abnormalities over the past ten years with no obvious cause, with a cluster of severe congenital brain malformations in the last thirty months. These malformations include schizencephaly and holoprosencephaly. Schizencephaly is the most severe form of a cortical malformation.1 Schizencephaly is estimated to affect 1.5 out of 100,000 live births. The clefting of the cerebral mantle most commonly occurs in the frontal lobes but can occur in the parietal lobe as well.2 Schizencephaly symptoms include developmental delays, speech and language difficulties, brain-spinal cord communication problems, microcephaly, hydrocephalus, seizures, complete or partial paralysis, and abnormal muscle tone.
    [Show full text]
  • Established Conditions List (PDF)
    Established Conditions (Not an exhaustive list) ICD10 Genetic and Metabolic Disorders Code Albinism E70.30 Albright ’s Hereditary Osteodystrophy E20.1 Angelman Syndrome (Happy Puppet Syndrome) Q93.5 Adrenoleukodystrophy E71.529 Antley -Bixler Syndrome (Multisynostotic Osteodysgenesis, Craniosynostosis, Choanal Atresia, Radial Humeral Synostosis, Trapezoidocephaly-Multiple Q87.5 Synostosis Syndrome, ABS, Multisynostotic Osteodysgenesis with Long Bone Fractures) Apert Syndrome (Acrocephalosyndactyly) Q87.0 Arthrogryposis Multiplex Congenita Q74.3 Ataxia -Telangiectasia Syndrome (Louis -Bar Syndrome) G11.3 Canavan Disease E75.29 Cardio -Facio -Cutaneo Syndrome Q87.89 Cerebral Lip idosis E75.6 Cerebro -Oculo -Fac io -Skeletal (COFS) Syndrome Q87.8 CHARGE Syndrome/Association Q89.8 Chromosome Syndromes10p+, 13q+, 3q+, 4Q+ Q92.5 Chromosome Syndromes 11p - (this one also called Jacobsen syndrome ), 12p -, 13q -, 18q-, 21q-, 22q-, , 4q-, (this is also Wolf-Hirschhorn syndrome )5p- (already below as Q93.89 cri-du-chat syndrome) Coffin -Lowry Syndrome Q89.8 Coffin -Siris Syndrome Q03.1 Cornelia de Lange Syndrome (Brachmann de Lange ) Q87.1 Cri -du -chat Syndrome (Deletion 5p Syndrome) Q93.4 Cystic Fibrosis E84.0 Dandy Walker Syndrome Q03.1 Down Syndrome (Trisomy 21) Q90.9 Duchenne Muscular Dystrophy G71.0 Dyggve -Melchio r-Clausen Syndrome (DMC Disease, DMC Q77 .7 Syndrome, Smith-McCort Dysplasia) Fragile X Syndrome Q99.2 Fraser Syndrome (Cryptophthalmos Syndrome, Meyer -Schwickerath's syndrome, Q87.0 Fraser-Francois syndrome, Ullrich-Feichtiger syndrome) Galactosemia E74.21 Gaucher Syndrome (Glucosylceramide storage disease; GSDI) E75.22 Glutaric Aciduria Type I E72.3 Type II E71.313 Glycog en Storage Disease E74.00 Jeune Syndrome Q77.2 Joubert Syndrome Q03.1 Krabbe’s disease E75.23 Lesch -Nyhan Syndrome E79.1 Lissencephaly Syndrome (Miller -Dieker Syndrome, Agyria) Q93.88 Maple Syrup Urine E71.0 Rev.
    [Show full text]
  • Distinction of Mohr`S Syndrome from OFD Type I: Case Report and Review of the Literature
    Distinction of Mohr`s Syndrome from OFD Type I: Case Report and Review of the Literature Rahul Kathariya1, Ketkee Asnani1, Amrita Bansal1, Hansa Jain1, Archana Devanoorkar2, Nishit Kumar Shah3 1Department of Periodontics and Oral Implantology, Dr. D.Y. Patil Dental College and Hospital, Dr. D.Y. Patil Vidyapeeth, Pune 411018, India. 2Department of Periodontics, AME's Dental College and Hospital, Bijengere Road, Raichur-584103, India. 3Department of Oral and Maxillofacial Surgery, Government Dental College and Hospital, Jamnagar-361006, India. Abstract The Oralfacialdigital Syndromes (OFD) results from the pleiotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits. In view of the different modes of inheritance and the different prognoses of the most common OFDs; OFD I, and II, it is important to establish a correct diagnosis in these patients. A case of type II OFD syndrome is being reported and the distinguishing clinico-radiological features with type I are compared. This case reports also reviews the various other types of OFD and their distinguishing characteristics and emphasizes the early diagnosis and treatment of the same. Key Words: Oralfacialdigital Syndrome, Mohr Syndrome, OFD1 Protein- Humanm, Syndactyly, Brachydactyly, Genetics, X-Linked Disease, Gene CXORF5 Introduction found to escape X-inactivation in humans, while the murine Oral-Facial-Digital Syndrome (OFD) is the collective name counterpart is subject to X-inactivation [7]. of a group of rare inherited syndromes characterized by The inheritance pattern of OFD II is autosomal recessive, malformations of the face, oral cavity, hands and feet [1]. Mohr i.e. both parents are healthy carriers of the mutated gene is credited with the first description of patients with oral- (Figure 1).
    [Show full text]