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]

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]

(July 2022) Genetics[edit] Warburg Micro is autosomal recessive, which means two copies of an abnormal gene must be present for the disorder to appear. [en.wikipedia.org]

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]

• Widely Spaced Nipples

  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). [ncbi.nlm.nih.gov]

  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]

• Bulbous Nose

  Child had microcephaly, child was wearing spectacles and responded poorly without it, hearing was normal, microphthalmia, microcornea, bulbous nose, broad nasal bridge, prominent ears, thin lips, long philtrum, prominent chin, micro penis (1.5cm), bilateral [juniperpublishers.com]

  He had microcephaly, narrow face, sparse eyebrows, frontal hypertrichosis, palpebral pseudoptosis, ogival palate, bulbous nose, short philtrum, asymmetric large ears and tapering fingers. [omicsonline.org]

• 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]

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]

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

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]

•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]

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]

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 [ncbi.nlm.nih.gov]

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]