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]

CASE REPORT A 7-month-old boy presented to Children’s University Hospital—Damascus with Ambiguous genitalia, muscular hypotonia, developmental delay and a history of corrected congenital bilateral cataract. [academic.oup.com]

Warburg Micro Syndrome- An Unusual Presentation with Brief Review 0015 of Literature. Acad J Ped Neonatol. 2020; 9(3): 555816. DOI: 10.19080/AJPN.2020.09.555816 Abstract Six months old child brought to our attention for developmental delay. [juniperpublishers.com]

It is not present in the ExAC database ( http://exac.broadinstitute.org/ ). [iamg.in]

• Malnutrition

  Feeding problems and malnutrition are present in most of the children due to their physical and mental disability. As the child grows, puberty is delayed due to hypogonadism which is a part of this syndrome. [pediatricneurosciences.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]

• Language Delays

  Furthermore, he had motor milestones and language delay, optic atrophy and visual impairment with no seizures. Figure 1 Pictures of the patient illustrating A. Severe hypotonia, B. hypogonadism, C. corrected cataract, D. bilateral medial squint. [academic.oup.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]

• Burning Micturition

  Mother had fever in 8 months of gestation but no history of rash, burning micturition or any other complains. Child was delivered via Caesarean section due to non-progression of labour. [juniperpublishers.com]

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]

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]

Treatment is symptomatic. Since congenital cataract is the most common symptom of the disease, most treatment strategies would target it. [cags.org.ae]

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]

•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]

[…] [email protected], 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]

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]

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]

[…] clinical disorders with normal NER by the presence of significant visual impairment and cortical blindness despite early surgery for congenital cataracts, frontal polymicrogyria, thin corpus callosum, and cortical atrophy on MRI. 30 PubMed Neighbors Prognosis [checkorphan.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]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Hypogonadotropic hypogonadism can also occur in individuals with Martsolf syndrome.Neither Warburg micro syndrome nor Martsolf syndrome affect the life expectancy of affected individuals. https://ghr.nlm.nih.gov/condition/rab18-deficiency Etiology Arroyo-Carrera [ncbi.nlm.nih.gov]

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]

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]

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]

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]

Mutations in the genes associated with Walker-Warburg syndrome prevent glycosylation of α-dystroglycan, which disrupts its normal function. [ghr.nlm.nih.gov]