While biallelic loss-of-function mutations in RAB3GAP1 are present in the majority of patients with Warburg Micro syndrome; a hypomorphic homozygous splicing mutation of RAB3GAP2 has been reported in a single family with Martsolf syndrome.[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]
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]
Their shortstature 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]
Mégarbané A, Choueiri R, Bleik J, Mezzina M, Caillaud C: Microcephaly, microphthalmia, congenital cataract, optic atrophy, shortstature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new[springermedizin.de]
Microcephaly, microphthalmia, congenital cataract, optic atrophy, shortstature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? J Med Genet 1999; 36: 637-640.[termedia.pl]
Mégarbané A, Choueiri R, Bleik J, Mezzina M, Caillaud C : Microcephaly, microphthalmia, congenital cataract, optic atrophy, shortstature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a[doi.org]
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]
The parents in the Turkish and Palestinian families are reported to be consanguineous; however, the parents of the other two families are not closely related.[doi.org]
Pediatricians, pediatric neurologists, eye specialists (ophthalmologists), clinical geneticists, speech pathologists, physical therapists, psychologists, and other healthcare professionals may need to systematically and comprehensively plan an affected[rarediseases.org]
He showed failure to thrive with oral/pharyngeal dysphagia and required PEG feeding. He has cryptoorchidism and a micropenis, is severely mentally retarded, he does not visually track, and at age 3 years 7 months is unable to sit unsupported.[doi.org]
COFS is characterized by blepharophimosis, camptodactyly, arthrogryposis, generalized osteoporosis, dysplastic acetabula, coxavalga, 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, coxavalga, and vertical talus manifesting as rocker bottom feet. [11] As these children did not have arthrogryposis, this was unlikely[pediatricneurosciences.com]
This includes abnormally smalleyes (microphthalmia) and abnormally small corneas. The corneas are the clear (transparent) outer layer of the eyes. Some infants have clouding of the lenses of the eyes at birth (congenital cataracts).[rarediseases.org]
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’ smalleyes ( a, c, d / e ), anteverted nares of variable severity ( c, g ), and a relatively narrow mouth with thin lips[doi.org]
Microcephaly, constricted pupils, excessive lacrimation, and microphallus were evident at 2.5 months. Postnatal testings, including TORCH serology, karyotyping, and analysis of the 607 BAC array, were normal.[doi.org]
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 thinlips[doi.org]
Microcephaly, constricted pupils, excessive lacrimation, and microphallus were evident at 2.5 months. Postnatal testings, including TORCH serology, karyotyping, and analysis of the 607 BAC array, were normal.[doi.org]
The pupil normally opens wider (dilates) in dim light or darkness, when focusing on far away objects, or when a person is excited. Affected children have intellectual disability that is often severe.[rarediseases.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]
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]
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
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]
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]
Etiology Mutations in RAB3GAP , a gene showing linkage to a region of homozygosity at 2q21.3, have been identified in some families.[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]
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