It should be suspected when cataracts are present at birth and developmental delays are noted.[3] Treatment[edit] There is no specific treatment for Warburg Micro syndrome, but there are ways to help the symptoms that come with it. [en.wikipedia.org]

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

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]

• Developmental Delay

  Keywords: Congenital cataract, developmental delay, Warburg micro syndrome Introduction Warburg micro syndrome is a rare autosomal recessive genetic disorder characterized by microcephaly, microcornea, congenital cataract, developmental delay, and hypogonadism [ncbi.nlm.nih.gov]

  As the child grows, puberty is delayed due to hypogonadism which is a part of this syndrome. This report aims to generate awareness regarding this rare cause of bilateral congenital cataract with developmental delay. [pediatricneurosciences.com]

  DOI: 10.19080/AJPN.2020.09.555816 Abstract Six months old child brought to our attention for developmental delay. Child came to our hospital for measles, on detailed history and examination, developmental delay noted at 6 months of age. [juniperpublishers.com]

  It should be suspected when cataracts are present at birth and developmental delays are noted.[3] Treatment[edit] There is no specific treatment for Warburg Micro syndrome, but there are ways to help the symptoms that come with it. [en.wikipedia.org]

• 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. [ncbi.nlm.nih.gov]

• Failure to Thrive

  The diagnosis of this syndrome is based on clinical grounds, but there are certain syndromes similar to Warburg syndrome, these are CAMFAK syndrome (cataract, arthrogryposis, microcephaly, failure to thrive, and kyphoscoliosis) [6], CAMAK syndrome (cataract [juniperpublishers.com]

  Failure to thrive was present during his development course, which did not respond to interventions (Figs. 1C, 3). Fig. 3: The gross anatomical features of the proband of family 2. [nature.com]

  […] to thrive 0001508 + + + + + + Growth hormone deficiency 0000824 + + NR NR NR + Head and neck Postnatal microcephaly 0000252 + + + + + (+) Micrognathia 0000347 + - + - - + Large ears 0000400 - + + + - - Microphthalmia 0000568 + + + + + + Microcornea 0000482 [ojrd.biomedcentral.com]

• Delayed Dentition

  Oral cavity shows delayed dentition (presently only 12 teeth) with caries, high-arched palate, and spastic tongue. He has long fingers with bilateral simian crease and scoliosis with concavity to left. [ncbi.nlm.nih.gov]

• Foot Deformity

  deformities 0001760 - - + + - + Hair Facial hypertrichosis 0002219 + + + - - - Neurologic Intellectual deficit 0001249 ++ ++ ++ ++ ++ + Optic atrophy 0000658 + + + + + - Hyperreflexia 0007034 + + + + + + Muscular hypotonia 0001290 + + + + + + Spastic [ojrd.biomedcentral.com]

• Prominent Nasal Root

  The patients also present with dysmorphic features, such as beaked nose with a prominent nasal root, large anteverted ears, hypertrichosis, micrognathia, and highly arched palate. Seizures and/or limb contractures may develop in some patients. [cags.org.ae]

  Abnormal craniofacial features in the proband include deep-set eyes, a prominent nasal bridge and root, a maxillary protrusion, and large anteverted ears. [nature.com]

  Facial features include a prominent nasal root, relatively short nose and large ears. His weight was normal 8.4 kg. Furthermore, he had motor milestones and language delay, optic atrophy and visual impairment with no seizures. [academic.oup.com]

  nasal root, short philtrum, and prominent ears [3]. [juniperpublishers.com]

• Psychomotor Retardation

  Some degree of psychomotor retardation and developmental delays is common. Both spasticity and hypotonia have been described. Some patients have seizures. Facial hypertrichosis, anteverted ears, and a broad nasal bridge are often noted. [disorders.eyes.arizona.edu]

  […] syndrome,241410 TBCE151.60.990.98Kenny-Caffey syndrome, type 1244460 TBCK97.60.950.89Hypotonia, infantile, with psychomotor retardation and characteristic facies 3,6169244460 TBL1XR197.30.90.75Mental retardation, autosomal dominant 41,616944 TBL1XR197.30.90.75Piermont [qgenomics.com]

  Mégarbané A, Choueiri R, Bleik J, Mezzina M, Caillaud C (1999) Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with Micro syndrome [juniperpublishers.com]

  Rodriguez Criado et al. (1999) discussed Micro syndrome in 2 sisters with microcephaly, microphthalmia, microcorneas, cataracts, sparse medial eyebrows, micrognathia, and severe psychomotor retardation. The parents were not related in this family. [iamg.in]

• Quadriplegia

  In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually [ncbi.nlm.nih.gov]

  The older children were wheelchair bound and had kyphoscoliosis, severe spastic quadriplegia with contractures, and diminished muscle bulk. [bio2rdf.org]

  The muscle problems worsen (progress) to include the arms and lead to paralysis of all four limbs (spastic quadriplegia). Eventually, breathing may be impaired. The brain abnormalities can contribute to vision problems (cortical visual impairment). [medlineplus.gov]

• Spastic Quadriplegia

  In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually [ncbi.nlm.nih.gov]

  The older children were wheelchair bound and had kyphoscoliosis, severe spastic quadriplegia with contractures, and diminished muscle bulk. [bio2rdf.org]

  The muscle problems worsen (progress) to include the arms and lead to paralysis of all four limbs (spastic quadriplegia). Eventually, breathing may be impaired. The brain abnormalities can contribute to vision problems (cortical visual impairment). [medlineplus.gov]

• 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]

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]

•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]

The overall prognosis is poor with most infants dying within the 1st year of life. [radiopaedia.org]

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]

[…] [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]

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]

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]

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

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]

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]

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]

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]