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About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 syndrome. It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected. The diagnosis of SOX2 disorder is established in a proband in whom molecular genetic testing identifies either a heterozygous intragenic SOX2 pathogenic (or likely pathogenic) variant or a deletion that is intragenic or a deletion of 3q26.33 involving SOX2 (see Table 1). The diagnosis can be made based on observation. National Library of Medicine. How do people inherit SOX2 syndrome? Brain MRI. For an introduction to comprehensive genomic testing click here. The term anophthalmia is often used interchangeably with severe microphthalmia because individuals with no visible eyeballs typically have some remaining eye tissue. U.S. Department of Health and Human Services. The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia, brain malformations, developmental delay/ intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes), pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements. SOX2 encodes the transcription factor SOX2 (317 amino acids) which has an HMG DNA-binding domain (amino acids 40-111), a partner-binding region, and a C-terminal transactivation region. If exome sequencing is not diagnostic, exome array (when clinically available) can detect copy number variants, such as (multi)exon deletions or duplications that may not be identified by exome sequencing. Hum Mol Genet. Assess axial & peripheral tone to advise on likely efficacy of antispasmodic medications & procedures. SOX2 anophthalmia syndrome: In addition to having no eyes or small eyes, people with this syndrome may have seizures and problems with the brain. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Infancy, mid-childhood, then every 3-6 mos from age 8 yrs, Every 3-6 mos during childhood or w/any progression of symptoms or signs, or deteriorating function, Most common pathogenic variant; accounts for ~20% of all pathogenic variants [, Recurrent familial variant assoc w/broad range of ocular phenotypes [. Less frequent variants, esp those that alter residues adjacent to Tyr160, are also assoc w/severe phenotype. In addition to a pediatrician or internist, someone with either of these conditions will probably need an ophthalmologist, an ocularist and an oculoplastic surgeon. Blackburn PR, Chacon-Camacho OF, Ortiz-Gonzlez XR, Reyes M, Lopez-Uriarte GA, Zarei S, Bhoj EJ, Perez-Solorzano S, Vaubel RA, Murphree MI, Nava J, Cortes-Gonzalez V, Parisi JE, Villanueva-Mendoza C, Tirado-Torres IG, Li D, Klee EW, Pichurin PN, Zenteno JC. growth mindset activities for high school pdf sox2 anophthalmia syndrome life expectancy [3] Microphthalmia-associated transcription factor (MITF), located on chromosome 14q32, is associated with one form of isolated microphthalmia (MCOP1). i told him i miss him and he said aww; la porosidad es una propiedad extensiva o intensiva The most common genetic cause for anophthalmia is mutated SOX2gene. In unilateral anophthalmia, one eye is missing. Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, risk assessment and the use of family history and genetic testing to clarify genetic Mutations in the SOX2 gene cause SOX2 anophthalmia syndrome. Hearing device can be helpful but no treatment is available for the eyeball malformations. Posted on June 7, 2022 by Mihelec M, Abraham P, Gibson K, Krowka R, Susman R, Storen R, Chen Y, Donald J, Tam PP, Grigg JR, Flaherty M, Gole GA, Jamieson RV. Prosthetic eyes: Prosthetic eyes are placed in empty eye sockets. GeneReviews(R) [Internet]. [Google Scholar] 10. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Beyond that, private supportive therapies based on the affected individual's needs may be considered. Disclaimer. As a child enters the teen years, a transition plan should be discussed and incorporated in the IEP. A minority of affected individuals develop early continual dystonic posturing that is similar to that seen in dystonic cerebral palsy but without evidence of basal ganglia injury on neuroimaging. Julian LM, McDonald AC, Stanford WL. Fetal MRI. This condition is caused by an extra X chromosome in each of a female's cells. No phenotypes other than those discussed in this GeneReview are known to be associated with heterozygous pathogenic variants in SOX2. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Some people with this condition are born with a blocked esophagus (esophageal atresia), which is often accompanied by an abnormal connection between the esophagus and the trachea (tracheoesophageal fistula). In general, retina tissue that is present has some functional activity. Multiple pages were reviewed for this article. Variable expressivity is observed with some recurrent pathogenic variants (Table 7). The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. ~50% of affected individuals had DD or autism. Genes associated with ocular manifestations frequently observed in SOX2 disorder (with or without nonocular comorbidities) are summarized in Table 3. sox2 anophthalmia syndrome life expectancy. Community vision services through early intervention or school district, Recurrent variant specifically assoc w/status dystonicus [. Vision and hearing consultants should be a part of the child's IEP team to support access to academic material. recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two GeneReviews [Internet]. contact: ude.wu@tssamda. Septum pellucidum defects, cerebellar hypoplasia, hypothalamic hamartoma, arachnoid cyst, and sellar or suprasellar tumors are also reported in multiple individuals [Ragge et al 2005, Sisodiya et al 2006, Gerth-Kahlert et al 2013, Blackburn et al 2018]. c/o Center for Developmental Medicine and Genetics, A cytogenetically visible deletion of 3q26.33 that either encompasses, Professor Veronica van Heyningen for continued helpful collaboration, MACS family support organization for their interest and support, 30 July 2020 (bp) Comprehensive update posted live, 31 July 2014 (me) Comprehensive update posted live, 25 August 2009 (me) Comprehensive update posted live, 7 March 2008 (cd) Revision: FISH analysis available clinically, 5 December 2007 (cd) Revision: deletion/duplication analysis available clinically. Anophthalmia is the absence of one or both eyes. Conformers: These are devices that fit into the eye socket to help your eye socket and face develop more typically. Gerth-Kahlert C, Williamson K, Ansari M, Rainger JK, Hingst V, Zimmermann T, Tech S, Guthoff RF, van Heyningen V, Fitzpatrick DR. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. SOX2-specific laboratory technical considerations. here. The term "SOX2 disorder" is used in this GeneReview to refer to the complete phenotypic spectrum associated with heterozygous SOX2 pathogenic variants. There are many ways to receive support: This is consistent with the known expression of SOX2 in the endoderm and genital ridge during development of chick and mouse embryos. Get useful, helpful and relevant health + wellness information, 9500 Euclid Avenue, Cleveland, Ohio 44195 |, Important Updates + Notice of Vendor Data Event. Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR. SOX2 anophthalmia syndrome. University of Edinburgh Posted on June 29, 2022 Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. The life expectancy of people with Down syndrome increased dramatically between 1960 and 2007. IEP services will be reviewed annually to determine whether any changes are needed. In bilateral anophthalmia, both eyes are missing. The SOX2 protein regulates the activity of other genes, especially those that are important for normal development of the eyes. How can gene variants affect health and development? Each of the hypothetic explanations for the embryonic origin of the small or missing eyes associated with SOX2 pathogenic variants predicts a different spectrum of clinical phenotypes. CMA is often used as a first step. 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. No further modifications are allowed. GeneReviews staff have not independently verified the classification of variants. B r J Ophthalmol 2007; 91: 1471 . Note: The severity of disease and specific clinical findings vary and cannot be accurately predicted by the family history or results of molecular genetic testing. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). Affected families are of Middle Eastern ethnicity. old fashion trends that died . Certain defects such as those of the heart, palate and esophagus can be surgically repaired. While both eyes are usually affected in SOX2 anophthalmia syndrome, one eye may be more affected than the other. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. Measurement of weight, length/height, & head circumference, Complete ophthalmologic exam by experienced pediatric ophthalmologist, Males: Assessment for micropenis &/or cryptorchidism. driver refresher course for seniors; vawa cases approved 2022 immihelp; Heterozygous loss of function. In two of these, FISH studies identified sub-microscopic deletions involving a minimum of 328 Kb and 550 Kb. club elite rhythmic . Keywords: Anopthalmia; microphthalmia; other disorders; quality of life. affected daughters. An ophthalmologist is a medical doctor who is trained in diagnosing and treating eye conditions and vision conditions. ED. Inheritance was observed as de novo constitutive or de novo mosaic events, or, less frequently, from parents with constitutional duplications (see DECIPHER). professional. When the phenotypic findings suggest the diagnosis of SOX2 disorder, molecular genetic testing approaches can include single-gene testing or use of a multigene panel: Comprehensive 2008;2(4-5):194-9. doi: 10.1159/000152035. MRC Human Genetics Unit Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, Toutain A, Calvas P. Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. Orphanet J Rare Seven children had apparently nonprogressive moderate sensorineural hearing loss requiring hearing aids. Individuals with SOX2 anophthalmia syndrome may also have seizures, brain abnormalities, slow growth, delayed development of motor skills (such as walking), and mild to severe learning disabilities. Glasses or contacts. Variants listed in the table have been provided by the authors. See a healthcare provider before you get pregnant and work together so you can be as healthy as possible before and during your pregnancy. The incidence of parental germline mosaicism in, The family history of some individuals diagnosed with, If a parent is affected and/or has the genetic alteration identified in the proband, the risk to the sibs of inheriting the genetic alteration is 50%. Surgery: You might need surgery to treat cataracts, coloboma or to help with the conformer fittings. Microphthalmia is when one or both of a baby's eyes are small. most nfl players by state per capita; press back chairs history; how to cut rubber backed carpet tiles; cape verdean tuna recipes. Tests that can diagnose microphthalmia and anophthalmia before birth include: Healthcare providers arent able to provide a new eye for people born with these conditions. Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation. Khler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gmez-Andrs D, Lochmller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices. For a review article see Julian et al [2017]. Microphthalmia, Syndromic . The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). It has been called also the SOX 2 anophthalmia syndrome 3 due to the frequent mutations and/or deletions found in the SOX2 gene. Gerth-Kahlert et al [2013], Chassaing et al [2014], Suzuki et al [2014], Mauri et al [2015], Zanolli et al [2020]. There are early intervention services to help your child learn and support groups to help your family and your child succeed. Coming to a Cleveland Clinic location?Hillcrest Cancer Center check-in changesCole Eye entrance closingVisitation, mask requirements and COVID-19 information, Notice of Intelligent Business Solutions data eventLearn more, Microphthalmia and anophthalmia are both congenital conditions that affect the eyes. Each child of a female proband with a constitutional. support organizations and/or registries for the benefit of individuals with this disorder Consider need for positioning & mobility devices & disability parking placard. Both the globe (human eye) and the ocular tissue are missing from the orbit. Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. sox2 anophthalmia syndrome life expectancy Isgho Votre ducation notre priorit These children should be considered at risk for status dystonicus, which can be triggered by any major physiologic stress and can lead to protracted periods of hospitalization and critical care. GeneReviews is not responsible for the information provided by other Br J Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel, and chromosomal microarray analysis [CMA]) and comprehensive People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). A congenital condition is one that you have when youre born. Mol Vis. Two or more of these features need to be present for a clinical diagnosis only 30% of patients have all three. Surveillance: Routine follow up with specialists managing the vision, educational, endocrine, and neurologic manifestations. SOX2 anophthalmia syndrome: 12 new cases Approximately 2/3 of all cases of anophthalmia are determined to be of genetic basis. It is also possible that complete failure of optic vesicle formation results in anophthalmia without optic nerve formation. Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. The early intervention program typically assists with this transition. 2006 Jun 15;15(12):2030. Guichet A, Triau S, Lepinard C, Esculapavit C, Biquard F, Descamps P, Encha-Razavi F, Bonneau D. Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. MRC Institute of Genetics and Molecular Medicine This includes prescription products and supplements. You must talk to your provider if you take isotretinoin and thalidomide. Genes of Interest in the Differential Diagnosis of SOX2 Disorder. Note: Testing of parental DNA may not detect all instances of somatic and germline mosaicism. a rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit. chromosome locus from The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10-15% of individuals with bilateral anophthalmia. Congenital anophthalmia is a developmental disorder in which the eye does not develop or is underdeveloped. A/M is rare, but the exact incidence is unknown. Assess for sensorineural & conductive hearing loss. The information on this site should not be used as a substitute for professional medical care or advice. Am J Med Genet A. When anophthalmia or microphthalmia is the only condition a baby has, it's called nonsyndromic or isolated. Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The Human Phenotype Ontology (HPO) enables use of precise, standardized, computationally accessible terms to describe phenotypic abnormalities. Sox2 Anophthalmia Syndrome Sox2-Related Eye Disorders Syndromic Microphthalmia 3 Registry Number 0 Heading Mapped to *Esophageal Atresia *Microphthalmos *Nervous System Malformations Frequency 7 Note PROM mutation in SOX2 Date of Entry 2012/11/05 Revision Date 2013/10/24. To establish the extent of disease and needs in an individual diagnosed with SOX2 disorder, the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to diagnosis) are recommended. Dystonia may worsen & can show acute change to status dystonicus, which should be considered a medical emergency. SOX2 eye defects are usually bilateral, severe, and apparent at birth or on routine prenatal ultrasound examination. The PI3K-Akt signaling pathway is likely to be involved in mesiodens pathogenesis because Sox2-positive odontogenic epithelial stem cells have been demonstrated to contribute to supernumerary tooth formation [87,90] and mutations in SOX2 have been reported to be associated with syndromic supernumerary teeth in SOX2 anophthalmia syndrome [91 . Both cases with patient's quality of life are noted in developing country. Feb 19. 1. Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. Zenteno JC, Perez-Cano HJ, Aguinaga M. Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. Services to help a child and their family deal with vision loss or blindness. Stark Z, Storen R, Bennetts B, Savarirayan R, Jamieson RV. Genital abnormalities have been described in affected individuals, especially males. MRC Institute of Genetics and Molecular Medicine 2008 Mar 24;14:583-92. Familial Being exposed to chemicals, like drugs or pesticides, during pregnancy. 15 A family history of anophthalmia was present in . The following section deals with genetic Education of parents/caregivers regarding common seizure presentations is appropriate. silobration vendor application 2022dream about someone faking their death ED. Recommended Surveillance for Individuals with SOX2 Disorder. Developmental preschool is center based; for children too medically unstable to attend, home-based services are provided. Anophthalmia is a birth defect where a baby is born without one or both eyes. Seattle (WA): University of Washington, Seattle; 1993-2023. Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, Kherani F, Katowitz J, Schimmenti LA, Hummel M, Fitzpatrick DR, Young TL. Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon JB, Bron A, Huet F, Hayward C. Heyningen Vv, Fitzpatrick DR. sox2 anophthalmia syndrome life expectancy. An AAC evaluation can be completed by a speech-language pathologist who has expertise in the area. Genital anomalies are present in only 33% of reported AEG. genomic testing, which does not require the clinician to determine which gene is likely involved, is an option when SOX2 disorder is not an easily achievable diagnosis. SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. Babies with SOX2 anophthalmia syndrome may have seizures, brains problems, slow growth, developmental delays and learning disabilities. SOX2 @ The Human Genetics Unit Edinburgh U.K. Gene-targeted deletion/duplication analysis, ~24% (~21% that could also be resolved by CMA & ~3% that are below the limit of detection by CMA), Bilateral microphthalmia &/or anophthalmia, Bilateral anophthalmia, optic disc aplasia/hypoplasia, Bilateral microphthalmia, coloboma, cataract, Unilateral or bilateral microphthalmia &/or anophthalmia. The degree of learning disability is not predictable by pathogenic variant type or presence or absence of eye involvement [Dennert et al 2017, Blackburn et al 2018, Errichiello et al 2018]. Here we provide a detailed description of the clinical features associated with SOX2 mutations in the five individuals with reported mutations and four newly identified cases (including the first reported SOX2 missense mutation). Seizures were observed in 22 individuals. SOX2 disorder should be considered in individuals with the following clinical and brain MRI findings and family history. Community hearing services through early intervention or school district, MRI, assessment of vision, ophthalmologic eval, Every 3-6 mos during childhood w/MRI only if change in clinical status, e.g., sudden change in light-dark or color perception, Follow-up eval w/ophthalmo-plastic surgeon. See Table A. Anophthalmia and microphthalmia may also be part of congenital syndromes, including: You may feel concerned if youre pregnant and you find out that your child may have microphthalmia or anophthalmia. . Prostheses: Consider optically clear expanders to stimulate growth of the orbit & periorbital tissues. Developmental Disabilities Administration (DDA) enrollment is recommended. We suggest that such deletions could be a relatively common cause of SOX2 anophthalmia syndrome and both tests should be included in the initial diagnostic . Sensorineural hearing loss. and their families. They also help with socket and face development and can help with cosmetic concerns. However, there are treatments that include: Theres no way to completely eliminate your risk of microphthalmia and anophthalmia, but there are ways to make pregnancy safer: Theres no cure for microphthalmia or anophthalmia. Microphthalmia and anophthalmia may happen along with other medical conditions that occur at birth, including issues with hands and feet malformation (like polydactyly), face and mouth malformation (like cleft lip and palate) and intellectual challenges. Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. Its a question of managing these conditions and any other conditions that might occur with them. For those w/micropenis, refer to endocrinologist for consideration of eval for hypogonadotropic hypogonadism. Youll need bigger devices as your face grows. DDA is a US public agency that provides services and support to qualified individuals. The risk to the sibs of the proband depends on the genetic status of the proband's parents: Other family members. To date, 174 individuals from 157 families have been identified with SOX2 disorder [Williamson & FitzPatrick 2014, Gorman et al 2016, Dennert et al 2017, Blackburn et al 2018]. All ages. An IEP provides specially designed instruction and related services to children who qualify. Epub 2007 May GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen.hgvs.org). Chromosomal aberrations involving this region of chromosome 3 have also been found. If CMA does not detect a copy number variant, genome sequencing and/or exome sequencing may be used. Delayed motor development was reported in the majority of affected children; the age of achieving independent walking ranged from 12 months to four years, although some individuals never achieve independent ambulation. sox2 anophthalmia syndrome life expectancy. Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Both conditions are rare, and can cause vision loss or blindness. These early intervention services will help babies learn to walk, talk and interact with others. Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, Yamamoto Y, Saito R, Sano S, Nagai T, Wada H, Endo A, Urakami T, Ogata T, Fukami M. Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities. Status dystonicus (a movement disorder emergency in which there is prolonged, generalized, intense, and painful muscle contraction) was originally reported in individuals with bilateral anophthalmia and a specific variant (see Genotype-Phenotype Correlations and Table 7) [Gorman et al 2016]; however, other variants, including the most common SOX2 variant, were subsequently associated with this feature in two individuals with bilateral anophthalmia or bilateral optic disc abnormality [Martinez & Madsen 2019, Pilz et al 2019]. Sisodiya SM, Ragge NK, Cavalleri GL, Hever A, Lorenz B, Schneider A, Williamson KA, Stevens JM, Free SL, Thompson PJ, van Heyningen V, Fitzpatrick DR. Role of SOX2 mutations in human hippocampal malformations and epilepsy. Anophthalmia/Microphthalmia (A/M) may affect one eye with the other eye being normal, or both eyes, resulting in blindness. See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes. It is an early marker of neurulation in chick embryos and shows site- and stage-specific expression in the developing nervous system, genital ridge, and foregut in all vertebrates studied. An ocularist is a provider who can make prosthetic devices like artificial eyes and conformers. Expand All. Ophthalmol. They may also. About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 anophthalmia syndrome. Male genital abnormalities include undescended testes (cryptorchidism) and an unusually small penis (micropenis). The ability to determine the size of the deletion/duplication depends on the type of microarray used and the density of probes in the 3q26.33 region. SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M. SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism. Make sure you get prenatal care (care before birth) early and consistently. Molecular Genetic Testing Used in SOX2 Disorder. Frequently cryptorchidism and/or micropenis in males (commonly a manifestation of hypogonadotropic hypogonadism); infrequently uterus hypoplasia and ovary or vaginal agenesis in females, Tracheoesophageal fistula and/or esophageal atresia, Delayed motor development/ learning disability, Spasticity, dystonia, or status dystonicus, For an introduction to multigene panels click, Unilateral anophthalmia or microphthalmia and a normal eye, Unilateral anophthalmia with cataract in the contralateral eye, Unilateral microphthalmia with coloboma or iris defect in the contralateral eye, Bilateral or unilateral congenital aphakia, Anterior segment dysgenesis (including sclerocornea or microcornea), A monozygotic twin with tracheoesophageal fistula and unilateral reduced palpebral fissure whose twin had unilateral anophthalmia as part of anophthalmia-esophageal atresia-genital abnormalities (AEG) syndrome [, A sibling fetus in a family with AEG syndrome, with brain anomalies and 11 rib pairs [, A woman with intellectual disability, corpus callosum agenesis, hypogonadotropic hypogonadism, vaginal agenesis, and spastic paraparesis [, A mother (with either heterozygosity or a high level of mosaicism of the, Two individuals identified in an intellectual disability cohort with mild microcornea, delayed speech and walking, esophageal stenosis, hearing deficits and mild facial hypoplasia in one; and strabismus, delayed speech, dystonic movements and spastic diplegia, hypogonadotropic hypogonadism, and corpus callosum and hippocampus malformation in the other individual [, Three individuals with mild ocular defects (esotropia, macro excavated optic disc, or thin retinal layer) and a combination of developmental delay, seizures, hypotonia or dystonia, tracheoesophageal fistula, suprasellar teratoma, and gonadal dysgenesis [.