He had bilateral simian crease, long fingers, syndactyly of 2nd–3rd toe of left foot, equinus deformity of right foot, and scoliosis with concavity to left, present since birth. [ncbi.nlm.nih.gov]

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]

None of the variants presented in this study are reported in the gnomAD, Iranome, GME, or TogoVar databases. [nature.com]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

• Disability

  Micro syndrome also known as WARBM, and Warburg–Sjo–Fledelius syndrome, is a rare autosomal recessive genetic disorder characterized by microcephaly, microcornea, congenital cataract, intellectual or developmental disability, optic atrophy, and hypogenitalism [dbpedia.org]

  From Wikidata Jump to navigation Jump to search autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism [wikidata.org]

  The cardinal features are microcephaly, microphthalmia, congenital cataract and intellectual disability. [ncbi.nlm.nih.gov]

  Intellectual or developmental disabilities can seriously affect a patient in the way they think and move. [wikivisually.com]

• Infertility

  The findings have been published in The American Journal of Human Genetics, in a paper titled “Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans.” [digitaljournal.com]

  DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ Title Loss-of-function mutations in TBC1D20 cause cataracts and male infertility [genome.jp]

  Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. The American Journal of Human Genetics, 93(6), 1001-1014. 4. [dergipark.org.tr]

  Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GMH, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ: Loss-of-function mutations in TBC1D20 cause cataracts and male infertility [springermedizin.de]

• Short Stature

  Their short stature was associated with severe osteopenia, mild growth hormone deficiency (levels -2.2 to 43 SDS), but appropriate bone age and normal calcium, phosphate, alkaline phosphatase serum levels (Figure 1 ). [ojrd.biomedcentral.com]

  Other Reports Lebanon Megarbane et al. (1999) described four children (one male and three females) from a highly inbred Shiite Muslim family from southern Lebanon with hypotonia, microcephaly, microphthalmia, congenital cataract, ptosis, short stature [cags.org.ae]

  Other key findings include severe intellectual disability, optic nerve atrophy, cortical visual impairment, postnatal microcephaly (rarely congenital), short stature, and hypogonadism (Handley et al. 2012. PubMed ID: 23176487; Handley et al. 2013. [preventiongenetics.com]

• Epilepsy

  MEHMO syndrome 0 *Epilepsy *Hypogonadism *Microcephaly *Obesity *Mental Retardation, X-Linked Genitalia/abnormalities. [reference.md]

  Whilst Warburg Micro remains untreatable, these pathways could help with other conditions like epilepsy and autism. The discovery was made at the Medical College of Wisconsin and the University of Edinburgh. [digitaljournal.com]

  Paolo Bonanni Epilepsy and Neurophysiology Unit IRCCS “E. [omicsonline.org]

  Individuals with Warburg micro syndrome may also have recurrent seizures (epilepsy).Some people with Warburg micro syndrome have reduced production of the hormones that direct sexual development (hypogonadotropic hypogonadism). [ncbi.nlm.nih.gov]

• Fever

  The consequence may be severe (rheumatic fever, nephritis, endocarditis, etc.) Chronic headache may be caused simply by a constitutional disposition or be the result of a brain tumor or a brain aneurysm. [en.wikipedia.org]

  […] see Mediterranean fever, familial FG syndrome FGFR3-associated coronal synostosis see Muenke syndrome Fibrinoid degeneration of astrocytes see Alexander disease Fibrocystic disease of the pancreas see cystic fibrosis FMF see Mediterranean fever, familial [drpareshmajumder.com]

• Small Head

  head, small eyes, optic atrophy, and hypogenitalism [3] Usual onset cataracts appear at birth, delayed milestones evident by 4-6 months [3] Diagnostic method symptom based, genetic testing [3] Treatment Supportive care[3] Frequency 144 cases reported [en.wikipedia.org]

  […] mandible (jaw) 46 Renal tubular defect (abnormal kidney function) Excessive caries (cavities) 43 Amenorrhea (failure to menstruate) Epicanthal folds (folds at inner edge of eye) 32 Rheumatoid arthritis Short neck 30 Flat feet Microcephaly (small head [labmed.hallym.ac.kr]

• Seizure

  In particular, 6 out of 13 patients had epilepsy, 3 with generalized tonic clonic seizures and the other 3 with myoclonic seizures. In two siblings reported by [ 2 ], the age at onset of myoclonic seizures was respectively 5 and 3 years. [omicsonline.org]

  He had multiple episodes of seizures until 2 years, and then seizures were controlled with optimum doses of antiepileptic drugs. [ncbi.nlm.nih.gov]

  Microcephaly seizures genital hypoplasia 0 *Microcephaly *Seizures *Urogenital Abnormalities. [reference.md]

  Additional systemic manifestations included axial hypotonia with evolving limb spasticity, and occasional seizures [6]. The reported case also had partial agenesis of corpus callosum, micropenis and bilateral retractile testis. [juniperpublishers.com]

• Hyperactivity

  Urinary tract infections (UTIs), migraine headaches, chronic fatigue syndrome (CFS), eczema, hayfever, allergies, bee stings, attention deficit-hyperactivity disorder (ADHD), influenza (flu), and other conditions. [annies.com]

  […] of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exterHP:0001302PachygyriaMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity [pediascape.org]

  […] disease, (PKDl) or 4 (PKD2) Prader-Willi syndrome, sickle-cell disease, Tay-Sachs disease, Turner syndrome, Alzheimer's disease, amyotrophic lateral sclerosis (Lou Gehrig's disease), anorexia nervosa, anxiety disorder, atherosclerosis, attention deficit hyperactivity [lens.org]

  The method of claim 28 wherein said disease state or condition is Alzheimer's disease, Amyotrophic lateral sclerosis (Lou Gehrig' s disease), Anorexia nervosa, Anxiety disorder, Atherosclerosis, Attention deficit hyperactivity disorder, Autism, Bipolar [brevets-patents.ic.gc.ca]

• Irritability

  […] disorder, autism, bipolar disorder, chronic fatigue syndrome, chronic obstructive pulmonary disease, Crohn's disease, coronary heart disease, dementia, depression, diabetes mellitus type 1, diabetes mellitus type 2, epilepsy, Guillain-Barre syndrome, irritable [lens.org]

  Coronary heart disease, Dementia, Depression, Diabetes mellitus type 1, Diabetes mellitus type 2, Epilepsy, Guillain¨Barré syndrome, Irritable bowel syndrome, Lupus, Metabolic syndrome, Multiple sclerosis, Myocardial infarction, Obesity, Obsessive¨compulsive [brevets-patents.ic.gc.ca]

• Hyperreflexia

  In physical examination, lower limb hyperreflexia was noted. She has not started speaking yet. In terms of abnormal craniofacial features, deep-set eyes, a prominent nasal root, a narrow mouth, and large anteverted ears can be recognized. [nature.com]

  […] hypermobility 0001382 - - (+) - - - Joint contractures 0002803 + + + + + - Foot deformities 0001760 - - + + - + Hair Facial hypertrichosis 0002219 + + + - - - Neurologic Intellectual deficit 0001249 ++ ++ ++ ++ ++ + Optic atrophy 0000658 + + + + + - Hyperreflexia [ojrd.biomedcentral.com]

• Confusion

  […] hypoplasiaunderdevelopment or reduced size of the embryonic anlage of the external genitalia, usually due to a reduced number of cellsHP:0001252Muscular hypotoniaMP:0004144hypotoniadecreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused [pediascape.org]

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]

PMID 26063829. ^ "Are There Treatments for Warburg Micro." https://www.warburgmicro.org/treatment/ 27 Mar. 2022. [en.wikipedia.org]

Treatment Treatment Options: No effective treatment is available. Vision remains subnormal even after cataracts are removed. Nutrition may be improved with placement of a gastrostomy tube. [disorders.eyes.arizona.edu]

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]

STIL, TCF4, TRAPPC9, TSEN54, TUBA1A, TUBB3, TUBGCP4, TUBGCP6, UBE3A, VPS13B, WDR62, ZEB2, ZNF335 Clinical Utility: Molecular confirmation of a clinical diagnosis Establish the type of microcephaly and cause in order to provide information regarding prognosis [genedx.com]

Top Prognosis - Warburg Sjo Fledelius syndrome Not supplied. Treatment - Warburg Sjo Fledelius syndrome Not supplied. Resources - Warburg Sjo Fledelius syndrome Not supplied. [checkorphan.org]

PMID: 25792360 Prognosis Zhou D, Wang Q, Liu H Medicine (Baltimore) 2021 Jan 15;100(2):e22902. doi: 10.1097/MD.0000000000022902. PMID: 33466118Free PMC Article Asahina M, Endoh Y, Matsubayashi T, Fukuda T, Ogata T Brain Dev 2016 Mar;38(3):337-40. [ncbi.nlm.nih.gov]

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]

[…] differs from COFS and CS in that patients have less prenatal and postnatal growth deficiency, cortical dysplasia rather than progressive brain atrophy, preservation of hearing, deficient visual perception despite early cataract removal, and a better prognosis [doi.org]

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]

Symptomatic treatment is not always recommended, and in fact, it may be dangerous, because it may mask the presence of an underlying etiology which will then be forgotten or treated with great delay. [en.wikipedia.org]

Epidemiology Since its initial description, 26 cases of Micro syndrome have been reported in the literature. [rarediseases.info.nih.gov]

Summary Epidemiology Since its initial description, 26 cases of Micro syndrome have been reported in the literature. [orpha.net]

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 [ncbi.nlm.nih.gov]

Dietary antioxidant deficiency Smoking: Quit it Dehydration Preventing or treating the aforementioned triggers can prevent cataract. [forum.xpertdox.com]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Symptoms - Warburg Sjo Fledelius syndrome Visual difficulties Cataracts High nasal bridge Mental retardation Concentration difficulties Causes - Warburg Sjo Fledelius syndrome Fatigue Tiredness Drowsiness Sleep debt Anxiety Prevention - Warburg Sjo Fledelius [checkorphan.org]

Preventing vaginal yeast infections when used with a medicated cream called econazole (Spectazole). [annies.com]

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]