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Warburg Micro Syndrome 3


Presentation

  • Another male sibling of theirs, who had presented with the same features, had died at the age of 5 years. The third case was a distant cousin of these patients. She too presented with similar clinical features.[cags.org.ae]
  • He had bilateral simian crease, long fingers, syndactyly of 2 nd –3 rd toe of left foot, equinus deformity of right foot, and scoliosis with concavity to left, present since birth.[pediatricneurosciences.com]
  • Neurological presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement).[coursehero.com]
  • Acronym WARBM3 Synonyms Micro syndrome 3 Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
Movement Disorder
  • Neurological presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement).[coursehero.com]
  • The clinical picture evolved to a spastic tetraparesis with axial hypotonia and limbs dystonic movement disorder. He had dysphagia and severe intellectual disability. The visual acuity was motu manu in the right eye and light perception in left eye.[omicsonline.org]
Recurrent Jaundice
  • The following types of liver disease can be observed: recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease.[coursehero.com]
Jaundice
  • The following types of liver disease can be observed: recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease.[coursehero.com]
Corneal Opacity
  • He had microphthalmia, bilateral cataract, microcornea, a central corneal opacity, small pupils and iris dysgenesis.[omicsonline.org]
Coxa Valga
  • COFS is characterized by blepharophimosis, camptodactyly, arthrogryposis, generalized osteoporosis, dysplastic acetabula, coxa valga, and vertical talus manifesting as rocker bottom feet. [11] As these children did not have arthrogryposis, this was unlikely[pediatricneurosciences.com]
Mask-like Facies
  • Neurological presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement).[coursehero.com]
Widely Spaced Nipples
  • Figure 2: A 7-year-old boy with microphthalmia, microcornea (a), low set posteriorly placed ears, widely spaced nipples (b), with micropenis, cryptorchidism, lower limb hypertonia (c), with kyphoscoliosis (d).[pediatricneurosciences.com]
Profound Mental Retardation
  • mental retardation, hypotonic spastic diplegia, polymicrogyria, hypoplasia of the corpus callosum, and hypogenitalism.[bio2rdf.org]
  • Children with WMS have profound mental retardation and physical disability requiring multidisciplinary approach for optimizing their life.[pediatricneurosciences.com]
Poor Coordination
  • Neurological presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement).[coursehero.com]
Confusion
  • Hysterical Moment That Confused Baby Meets Twin... Little Girl's Adorable Faith Response To Taking...[godtube.com]
Microphallus
  • He had microphallus, scrotal hypoplasia and atrophic testes. He had axial hypotonia and the deep tendon reflexes were brisk. There was no organomegaly. His fingers were long and thin.[iamg.in]

Workup

  • Clinical Testing and Workup A thorough eye (ophthalmological) examination is necessary in infants suspected of Warburg Micro syndrome. Such an exam can reveal characteristic changes in the eyes.[rarediseases.org]
Epileptiform Activity
  • Clonazepam and Valproate were added to treatment and afterwards no further epileptic events occurred nor epileptiform activities were observed. Karyotype, array-CGH and Sanger sequencing of tubulin and GPR56 genes detected no alterations.[omicsonline.org]
3 Hz Spikes
  • They were related to an EEG paroxysmal discharge of generalized and regular high amplitude 3 Hz spike-waves ( Figure 2 ).[omicsonline.org]

Treatment

  • Management and treatment There is no specific treatment for Micro syndrome and the management is symptomatic. The conventional approach used for congenital cataract should be recommended. Last updated: 1/16/2006[rarediseases.info.nih.gov]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[resourcerepository.org]
  • Treatment options that may be used to treat individuals with Warburg Micro syndrome can be complex and varied. The specific treatment plan will need to be highly individualized.[rarediseases.org]

Prognosis

  • •Funded by the UK Charities: Genetic Disorders and POPSY - the aim of this unique Conference is to: - Improve Prognosis Information for families around the world - Raise Awareness and - Encourage Research into this cruel genetic condition.[events.longisland.com]
  • This conference, funded by 2 UK charities, Popsy and Genetic Disorders UK, aims to improve prognosis information for families around the world, raise awareness, and encourage research into this cruel genetic condition.[patch.com]
  • […] fatmadursun54@yahoo.com , Source MeSH Abnormalities, Multiple Cataract Child Cornea Cryptorchidism GTPase-Activating Proteins Genital Diseases, Male Homozygote Humans Hypogonadism Intellectual Disability Male Microcephaly Mutation Optic Atrophy Penis Prognosis[unboundmedicine.com]
  • Parents should talk to their children’s physicians and medical team about their specific case, associated symptoms and overall prognosis. Children with Warburg Micro syndrome have problems with vision and their eyes.[rarediseases.org]

Etiology

  • Etiology Mutations in RAB3GAP, a gene showing linkage to a region of homozygosity at 2q21.3, have been identified in some families.[rarediseases.info.nih.gov]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.[ncbi.nlm.nih.gov]

Epidemiology

  • Epidemiology: The incidence of Wilson disease was calculated in the different Israeli communities in 1984 and was 1:10,000 among Arabs and 1:3,000 among Druze.[coursehero.com]
  • Epidemiology Since its initial description, 26 cases of Micro syndrome have been reported in the literature.[rarediseases.info.nih.gov]
  • 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

Pathophysiology

  • Several microarray studies have also shown dysregulation of RAB18 in neuroendocrine gastointestinal tumors,28 prostate adenocarcinoma,29 breast cancer,30 and pancreatic adenocarcinoma.31 The exact role of RAB18 in the pathophysiology of these tumors is[kundoc.com]

Prevention

  • Treatment with copper chelating agents or zinc can prevent the development of hepatic, neurologic, and psychiatric findings in asymptomatic affected individuals and can reduce findings in many symptomatic patients.[coursehero.com]
  • For long term storage, store at -20 C in small aliquots to prevent freeze-thaw cycles. Target 22931 Q9NP72 WARBM3; RAB18LI1; Ras-related protein Rab-18; RAB18 Plays a role in apical endocytosis/recycling.[biossusa.com]
  • Symptoms - Micro syndrome Prevention - Micro syndrome Not supplied. Diagnosis - Micro syndrome Graham et al. (2004) pointed out that a prenatal viral infection should be ruled out before considering mendelian origins for Micro syndrome.[checkorphan.org]
  • Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing or mimicking the disorder prevents physicians from developing a complete picture of associated symptoms[rarediseases.org]

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