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Cortical Blindness-Intellectual Disability-Polydactyly Syndrome


  • Jankovic is the recipient of many other honors including the American Academy of Neurology (AAN) Movement Disorders Research Award, sponsored by the Parkinson’s Disease Foundation, the Guthrie Family Humanitarian Award, presented by the Huntington’s Disease[books.google.com]
  • The aim of this section is to present such cases.[frontiersin.org]
  • Myopia is sometimes present. The ERG reveals generalized rod and cone dysfunction in some eyes, but may be normal in others. In many eyes the ERG is nonrecordable. Cataracts are frequently present.[disorders.eyes.arizona.edu]
  • Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S.[globalgenes.org]
  • Search HIVEP2-related intellectual disability HIVEP2-related intellectual disability is a neurological disorder characterized by moderate to PPP2R5D-related intellectual disability PPP2R5D-related intellectual disability is a neurological disorder characterized[ghr.nlm.nih.gov]
  • Intellectual Disability Intellectual disability, autosomal recessive Intellectual Disability Intellectual disability, syndromal Intellectual Disability Intellectual disability, X-linked Intellectual Disability Joubert syndrome Intellectual Disability[genomediagnosticsnijmegen.nl]
  • Doctors seek help from various therapists and community services to provide support and care for families affected by intellectual disability and vision loss.[diseaseinfosearch.org]
  • Developmental Delay, Coarse Facies, And Earlydeath Guanidinoacetate Methyltransferase Deficiency Hartnup Disorder Hemophagocytic Lymphohistiocytosis, Familial, 1 Hemophagocytic Lymphohistiocytosis, Familial, 2 Hepatic Fibrosis-Renal Cysts-Intellectual Disability[familydiagnosis.com]
  • Related symptoms: Autosomal recessive inheritance Intellectual disability Global developmental delay Brachydactyly Blindness SOURCES: GARD DOID OMIM MONDO MESH UMLS More info about BARDET-BIEDL SYNDROME 3; BBS3 Medium match CONE-ROD DYSTROPHY 16; CORD16[mendelian.co]
Movement Disorder
  • Phenothiazines, butyrophenones, metoclopramide, and other dopaminergic blockers may exacerbate movement disorders. Ondansetron should be safe as an antiemetic because it does not have antidopaminergic effects.[aneskey.com]
  • disorders (WES) Neurological Muscle disorders (WES) Neurological Neurodegeneration due to cerebral folate transport deficiency Neurological Neurodegeneration with brain iron accumulation Neurological Neuropathies (WES) Neurological Parkinson disease[genomediagnosticsnijmegen.nl]
  • Megalencephaly – M-CM Network (Macrocephaly Capillary Malformation) MPPH Syndrome (Megalencephaly Polymicrogyria Polydactyly Hydrocephalus Syndrome) MPPH Syndrome Definitions Polymicrogyria: A condition characterized by abnormal development of the brain[pmgawareness.org]
  • Generalized Limb-Onset Dystonia Edinburgh Malformation Syndrome Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 Epileptic Encephalopathy, Early Infantile, 8 Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker[familydiagnosis.com]
  • Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Intellectual disability, severe and Bulbous nose, related diseases and genetic alterations Macrocephaly and Osteoporosis, related diseases[mendelian.co]
  • It is primarily characterized by: polydactyly-polysyndactyly: preaxial polydactyly (most common 2) or mixed pre- and postaxial polydactyly true ocular hypertelorism macrocephaly f...[radiopaedia.org]
  • 1 PAFAH1B1 Lissencephaly type 2 (Norman-Roberts type) RELN Lissencephaly type 3 TUBA1A Lissencephaly type 5 LAMB1 Lissencephaly, X-linked type 1 DCX Lissencephaly, X-linked type 2 ARX Lujan-Fryns syndrome MED12 Lymphedema-distichiasis syndrome FOXC2 Macrocephaly[centogene.com]
Visual Hallucination
  • Cortical blindness can be associated with visual hallucinations, denial of visual loss ( Anton–Babinski syndrome ), and the ability to perceive moving but not static objects. ( Riddoch syndrome ). [ citation needed ] Outcome [ edit ] The prognosis of[en.wikipedia.org]
Frontal Bossing
  • bossing 33 HP:0002007 6 intellectual disability 60 Very frequent (99-80%) 7 hyperreflexia 60 Frequent (79-30%) 8 global developmental delay 33 HP:0001263 9 recurrent respiratory infections 60 Very frequent (99-80%) 10 short stature 60 Very frequent ([malacards.org]
  • bossing Chronic kidney disease Oculomotor apraxia Intellectual disability, severe Cerebellar vermis hypoplasia Molar tooth sign on MRI Hepatomegaly Foot polydactyly Nyctalopia Retinal degeneration Nephropathy Hand polydactyly Postaxial foot polydactyly[mendelian.co]
  • We also assessed typical JSRD craniofacial dysmorphic features such as broad nasal tip, frontal bossing, hypertelorism, and ptosis.[link.springer.com]
  • AAN) Movement Disorders Research Award, sponsored by the Parkinson’s Disease Foundation, the Guthrie Family Humanitarian Award, presented by the Huntington’s Disease Society of America, the Tourette Syndrome Association Lifetime Achievement Award, the Dystonia[books.google.com]
  • 1, Torsion, Autosomal Dominant Early-Onset Generalized Limb-Onset Dystonia Edinburgh Malformation Syndrome Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 Epileptic Encephalopathy, Early Infantile, 8 Epiphyseal Dysplasia, Multiple, With[familydiagnosis.com]
  • 24, Cranio-cervical dystonia with laryngeal and upper-limb involvement Sequencing of all coding exons of the gene - - 2.9 AP2S1 Hypocalciuric hypercalcemia, familial, type III Sequencing of all coding exons of the gene - - 0.5 APOA1 Amyloidosis Sequencing[cegat.de]
  • Neurological Dystonia, dopamine responsive Neurological Epilepsy (WES) Neurological Epilepsy with neurodevelopmental defects (EPND) Neurological Epilepsy, Idiopathic Neurological Epilepsy, myoclonic Neurological Episodic ataxia Neurological Episodic[genomediagnosticsnijmegen.nl]
  • Abnormality of the anus Abnormality of the nares Bilateral renal agenesis Abnormality of the thymus Urethral atresia Laryngeal web Difficulty in tongue movements Extension of hair growth on temples to lateral eyebrow Laryngeal atresia Dental malocclusion Dystonia[mendelian.co]
  • He is current or past member of numerous scientific and medical advisory boards of national foundations including the Worldwide Education and Awareness for Movement Disorders (WE MOVE), Dystonia Medical Research Foundation, International Tremor Foundation[books.google.com]
  • […] hypoplasia Dilatation Dental crowding Renal hypoplasia/aplasia Atresia of the external auditory canal Inguinal hernia Abnormality of the urinary system Cutaneous syndactyly Anal stenosis Aplasia/Hypoplasia of the thumb Hydroureter Clitoral hypertrophy Tremor[mendelian.co]
  • […] kinesigenic dyskinesia Neurological Episodic pain syndrome Neurological Erythermalgia, primary or idiopathic Neurological Familial infantile convulsions with paroxysmal choreoathetosis Neurological Febrile seizures Neurological Fragile-X associated tremor[genomediagnosticsnijmegen.nl]
  • In some cases, tremor has been reported [ 20 ].[ojrd.biomedcentral.com]
  • .  Severe cognitive, speech, and motor delays, mental retardation  Behavioural problems such as hyperactivity, aggression, and repetitive movements.  Excessive drooling(ptyalism) 22.[slideshare.net]
  • Hyperactivity and aggressiveness combined with dependency require constant vigilance and care. Postaxial polydactyly is a feature of some cases. Hypotonia is evident at birth. Liver failure and renal disease develop in many individuals.[disorders.eyes.arizona.edu]
  • Variable humoral immunity (normal, hyperactive, or reduced). Can have autoimmune hemolytic anemia. Can develop B-cell lymphoma.[aneskey.com]
  • Psychiatric problems related to 22q11DS have also been described in children and adolescents, including attention-deficit/hyperactivity disorders, anxiety disorders, depression, and autism spectrum disorders. 43 – 46 Most 22q11DS patients have speech[dovepress.com]


  • J Med Genet 34: 582–586 PubMed Google Scholar Froster UG, Stallmach T, Wisser J et al. (1997) Lethal multiple pterygium. syndrome: Suggestion for a consistent pathological workup and review of reported cases.[link.springer.com]
Liver Biopsy
  • Diagnosis is then confirmed by liver biopsy. Possibly associated signs need to be investigated, including pituitary defects, cleft palate, lobulated tongue, congenital heart defects, situs inversus and Hirschsprung disease.[ojrd.biomedcentral.com]


  • Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground.[globalgenes.org]
  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]
  • Treatment is developed on a case-by-case basis and depends on the specific needs of the patient. Doctors may suggest patients undergo surgery to fix finger problems.[diseaseinfosearch.org]
  • Cholic acid is an alternative treatment, but there is far less experience with this regimen and regulatory approval for this treatment is pending. CDCA is currently used off label to treat CTX.[rarediseasesnetwork.org]
  • Such treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child’s treatment.[rarediseases.org]


  • "Cortical Blindness: Etiology, Diagnosis, and Prognosis". Annals of Neurology. 21 (2): 149–158. doi : 10.1002/ana.410210207. PMID 3827223. a b c d e f "Archived copy". Archived from the original on 2012-11-10. Retrieved 2012-11-05.[en.wikipedia.org]
  • Prognosis Soon after birth, prognosis is related to the extent and severity of breathing dysregulation. In particular, recurrent episodes of prolonged apneas can be life-threatening and require assisted ventilation.[ojrd.biomedcentral.com]
  • Pulmonary hypoplasia is common which, together with kidney and liver disease, is responsible for the poor prognosis of most infants.[disorders.eyes.arizona.edu]
  • Diagnosis of this syndrome is based mostly on clinical criteria and, due to a better prognosis, requires a priori exclusion of BBS [ 6 , 15 ]. One of the known genes responsible for this syndrome is the MKS gene.[omicsonline.org]


  • "Cortical Blindness: Etiology, Diagnosis, and Prognosis". Annals of Neurology. 21 (2): 149–158. doi : 10.1002/ana.410210207. PMID 3827223. a b c d e f "Archived copy". Archived from the original on 2012-11-10. Retrieved 2012-11-05.[en.wikipedia.org]
  • On the basis of electroencephalography, disorders with epileptic etiology were ruled out. Ophthalmological tests showed bilateral hyperopic astigmatism.[omicsonline.org]
  • These diseases were named before their shared peroxisomal etiology was appreciated. It is now generally agreed that these diagnostic categories represent a continual spectrum of severity.[rarediseasesnetwork.org]
  • But maternal age does not act as an etiologic factor for the finding of enhanced maternal origin of the deletion.[dovepress.com]
  • Hearing loss is described as sensorineural in etiology but malformations of the pinnae and external meatus are sometimes present.[disorders.eyes.arizona.edu]


  • Epidemiology It has reported in only thee patients: a 14-month old female infant and her two sibs, both of whom died during the neonatal period.[rarediseases.info.nih.gov]
  • Epidemiology It typically affects infants and young ...[radiopaedia.org]
  • Am J Med Genet 71: 8–15 PubMed Google Scholar Rittler M, Paz JE, Castilla EE (1997) VATERL: an epidemiologic analysis of risk factors.[link.springer.com]
  • An update on progress and the changing epidemiology of causes of childhood blindness worldwide. J.[frontiersin.org]
  • Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics , 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010).[centogene.com]
Sex distribution
Age distribution


  • The pathophysiologic mechanisms causing the manifestations of SLS are thought to be due to accumulation of long-chain fatty alcohols and fatty aldehydes in cellular membranes.[rarediseasesnetwork.org]


  • In general, the committee decides only to report (likely) pathogenic variants indicative of a treatable or preventable health problem, when it is regarded to be in the counselee’s best interest to be informed.[order.radboudumc.nl]
  • Child Health UCL 07-Feb-2005Downs Syndrome - Advancing Female AgeNewcastle Fertility Cente - Newcastle Upon Tyne 07-Feb-2005Congenital Diaphragmatic HerniaUniversity of Oxford 07-Feb-2005Chromosome Database - Congenital RegisterWolfson Institute of Preventive[newlifecharity.co.uk]
  • Treatment may include medications to prevent, reduce, or control seizures (anticonvulsant drugs).[rarediseases.org]
  • Early treatment can prevent most, if not all, clinical complications. Replacement of CDCA inhibits the conversion of cholesterol to cholestanol and reduces the production of bile alcohols.[rarediseasesnetwork.org]
  • This can be prevented by placing a bolster under the shoulders. Forty-six percent of patients have spinal involvement, so perioperative neurologic and orthopedic examinations are critical.[aneskey.com]

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