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. [ncbi.nlm.nih.gov]

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

• 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]

  Mégarbané A, Choueiri R, Bleik J, Mezzina M, Caillaud C: Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new [springermedizin.de]

• Turkish

  Here, we report a novel homozygous RAB3GAP2 small in-frame deletion, c.499_507delTTCTACACT (p.Phe167_Thr169del) that causes Warburg Micro syndrome in a girl from a consanguineous Turkish family presenting with congenital cataracts, microphthalmia, absent [ncbi.nlm.nih.gov]

  We have found five new mutations in the RAB3GAP1 gene in seven patients with suspected MICRO Syndrome, from families with Turkish, Palestinian, Danish and Guatemalan backgrounds. [hal.archives-ouvertes.fr]

• Aspiration

  He had bilateral cataracts, for which lens aspiration was done, with no improvement in vision. Child has not attained neck control, turns head to sound, and does not try to with development quotient of 3.6%. He has no history of seizures. [ncbi.nlm.nih.gov]

  At three years of age he underwent lens aspiration and after a few years the surgical correction of a secondary corectopia was required. [omicsonline.org]

• 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]

• Osteoporosis

  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 [ncbi.nlm.nih.gov]

  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]

  0000482 + + + + + + Congenital cataract 0000519 + + + + + + Ptosis 0000508 - - (+) - - - Nystagmus 0000639 - - (+) - - - Epicanthal folds 0000286 - - - - - + Genitourinary Cryptorchism 0086889 NA + + + + + Hypogenitalism 0003241 - + + + + + Skeletal Osteoporosis [ojrd.biomedcentral.com]

• 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 [ncbi.nlm.nih.gov]

  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]

• 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]

  nasal root, large dysmorphic ears, highly arched or narrowing palate, and micrognathia seem to be the most frequent dysmorphic facial features, present in all reported cases of micro syndrome. [ncbi.nlm.nih.gov]

  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]

• Beaked Nose

  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]

  These children include microcephaly, hypogenitalism, cryptorchidism, borderline microphthalmia, micro cornea, congenital cataracts, optic nerve atrophy, and retinal dystrophy, these children have mental retardation and hypertrichosis, beaked nose with [juniperpublishers.com]

• Thin Lips

  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]

  Consistent facial features appear to be low-set ears (apparent in a, d/e ) a wide nasal bridge, which may be because of the patients’ small eyes ( a, c, d / e ), anteverted nares of variable severity ( c, g ), and a relatively narrow mouth with thin lips [doi.org]

• 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]

• Hyperreflexia

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

• Generalized Tonic-Clonic 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]

• 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]

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]

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

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]

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

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]

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]

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]

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]