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Hyperphosphatasia with Mental Retardation Syndrome 4

Hyperphosphatasia-Intellectual Disability Syndrome


Presentation

  • Moreover, we present additional unreported clinical and neuro‐imaging findings and a novel mutation thus expanding the phenotypic and mutational spectrum of this rare disorder.[bionity.com]
  • Acronym HPMRS4 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, gr...[medworm.com]
  • Either way, the presentation of non-syndromic intellectual disability as a mild presentation of a Congenital Disorder of Glycosylation brings up the old debate again whether patients with such a presentation should be systematically screened for underlying[epilepsygenetics.net]
  • Same gene affected in similar patients WDR62 Diagnosing atypical presentations of known diseases Congenital chloride losing diarrhoea (AR) 19 Infantile failure to thrive, dehydration, hypokalaemia and metabolic acidosis.[academic.oup.com]
Bruxism
  • Poor growth (1 patient), microcephaly (-2 to -3 SD) (in some patients), large fleshy earlobes, hypertelorism, upslanting palpebral fissures, broad nasal bridge and tip, tented upper lip, thin upper lip, cleft palate (in some patients), and bruxism.[iofbonehealth.org]
Muscle Hypotonia
  • There is generalized muscle hypotonia , laxity and hyperextensibility of joints. Pes planus , genu recurvatum , habitual dislocation are common. Association with arthrogryposis and congenital dislocation of hip has been seen.[atulchoube.wordpress.com]
Fear
  • For other patients and families, there is anxiety and fear about the transition process. For yout...[medworm.com]
  • Lai M , Robards M, Berry A, Fear C, Hart C. Two cases of interstitial deletion 1p. J Med Genet 1991 ; 28 : 128 –130. Petersen MB , Warburg M. Interstitial deletion 1p in a 30 year old woman. J Med Genet 1987 ; 24 : 229 –31.[jmg.bmj.com]
Involuntary Movements
  • Gene PGAP3 gene, 17q12 (OMIM gene/locus number #611801 ) Phenotype Severely delayed psychomotor development with mental retardation, hypotonia, inability to walk, lack of speech development, generalized seizures, myoclonic seizures, involuntary movements[iofbonehealth.org]
  • Movements 1 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 1 Neuroferritinopathy 1 Neurofibromatosis, Familial Spinal 2 Neurofibromatosis, Type 1 8 Neurofibromatosis, Type 2 1 Neurofibromatosis-Noonan Syndrome 2 Neuromyotonia[preventiongenetics.com]
Neurologic Manifestation
  • Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric[books.google.com]
  • manifestations Exome sequencing of a single patient.[academic.oup.com]
Generalized Seizure
  • Gene PGAP3 gene, 17q12 (OMIM gene/locus number #611801 ) Phenotype Severely delayed psychomotor development with mental retardation, hypotonia, inability to walk, lack of speech development, generalized seizures, myoclonic seizures, involuntary movements[iofbonehealth.org]

Workup

  • We hope that a functional workup of these mutations with respect to their protein impairment of PIGV will enable a better prediction of the phenotypic outcome of the patients based on the genotype information. References 1.[nature.com]
  • Clinical Testing and Workup If indicated, further examinations and specialized imaging techniques are recommended to establish the extent of the disorder.[rarediseases.org]
  • Further efforts to define the correct place for whole exome genetic sequencing in the diagnostic workup of such patients is warranted.[frontiersin.org]

Treatment

  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • In the area of metabolic disease, he is developing new treatments for maple syrup urine disease and urea cycle disorders. Fernando Scaglia, MD, is a Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine.[books.google.com]
  • While there are many different processes, the ultimate purpose of clinical reasoning is to ensure the person seeking help has their needs identified then met, and the clinician has a basis upon which to decide which treatment they should offer.[medworm.com]
  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]
  • Standard Therapies Treatment The treatment of CSS is directed toward the specific features of each individual.[rarediseases.org]

Prognosis

  • Diagnosis and Prognosis: The physical signs are subtle at birth so that diagnosis can be difficult to make in the newborn period.[disorders.eyes.arizona.edu]
  • Pulmonary hypoplasia is common which, together with kidney and liver disease, is responsible for the poor prognosis of most infants.[disorders.eyes.arizona.edu]

Etiology

  • 1 West Syndrome: A Review and Guide for Paediatricians. ( 29086890 ) D'Alonzo R....Esposito S. 2018 2 Cytotoxic edema at onset in West syndrome of unknown etiology: A longitudinal diffusion tensor imaging study. ( 29315514 ) Ogawa C....Natsume J. 2018[malacards.org]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • […] abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools and will thereby contribute toward nascent efforts at global data exchange for identifying disease etiologies[robinsongroup.github.io]
  • Rosalki SB, Foo Y (1983) Transient hyperphosphatasemia of infancy: Four new cases and a suggested etiology. Clin Chem 26:1109–1110 Google Scholar 12. Rosalki SB, Foo Y (1983) More on transient hyperphosphatasemia of infancy.[link.springer.com]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
  • They see that child not just surviving, but excelling, due to the partnership… By guest blogger Tomasz Witkowski Looking at the latest epidemiological data, it could be argued that we are in the midst of a pandemic of mental illness, of dimensions never[medworm.com]
Sex distribution
Age distribution

Pathophysiology

  • We recommend that any autopsy on newborn infants include a specific search for misalignment of pulmonary vessels to outline the pathophysiology and clinical significance of this disorder.[doi.org]
  • J Clin Endocrinol Metab 93:2084–2088 CrossRef PubMed Google Scholar Werner ER, Blau N, Thöny B (2011) Tetrahydrobiopterin: biochemistry and pathophysiology (review).[link.springer.com]

Prevention

  • Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive[jamanetwork.com]
  • As a result definitive diagnosis may be prevented or seriously delayed.[frontiersin.org]
  • CC BY-ND CC-BY-NC-ND Restrictive Licence : A licence preventing reuse of material unless certain restrictive conditions are satisfied. Note licence restrictions, and contact rights holder for permissions beyond the terms of the licence.[researchdata.ands.org.au]
  • During infancy, treatment may also require measures to help prevent or aggressively treat respiratory infections. Early intervention may be important in ensuring that affected children reach their potential.[rarediseases.org]

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