[ Read summary ] Many factors can affect how long a person with Down syndrome lives. Lenz microphthalmia syndrome: In addition to small eyes, people with this syndrome may have uncontrolled eye movements, learning issues and problems with the skeletal and urinary systems. More detailed information for clinicians ordering genomic testing can be found here. It can also cause seizures, brain problems, and delayed growth. Male genital abnormalities include undescended testes (cryptorchidism) and an unusually small penis (micropenis). The SOX2 phenotypes include a patient with anophthalmia, oesophageal abnormalities and horseshoe kidney, and a patient with a retinal dystrophy implicating SOX2 in retinal development. DDA is a US public agency that provides services and support to qualified individuals. Children and adults who have a rare disease and their caregivers are encouraged to talk about their needs with the medical team and to reach out for the support they require. Both the globe (human eye) and the ocular A/M is rare, but the exact incidence is unknown. Sox2 anophthalmia syndrome is an autosomal dominant inheritance. Recommended Surveillance for Individuals with SOX2 Disorder. Being exposed to chemicals, like drugs or pesticides, during pregnancy. There are early intervention services to help your child learn and support groups to help your family and your child succeed. This phenomenon is called germline mosaicism. 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]. GeneReviews is not responsible for the information provided by other Vision and hearing consultants should be a part of the child's IEP team to support access to academic material. The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10-15% of individuals with bilateral anophthalmia. An ocularist is a provider who can make prosthetic devices like artificial eyes and conformers. One report from a prospective study of 50,000 newborns found an incidence of microphthalmia of 0.22 per 1,000 live births. Data were extracted from full text case reports exclusively describing SOX2 disorder (n=38) using exact string matching. SOX2 anophthalmia syndrome Also known as: AEG syndrome, Anophthalmia-esophageal-genital syndrome, SOX2-related eye disorders, syndromic microphthalmia 3 About Description and symptoms Communities Support groups for Sox2 Anophthalmia Syndrome Providers Healthcare providers in the area Research GeneReviews staff have not independently verified the classification of variants. The term anophthalmia is often used . . Dystonia may worsen & can show acute change to status dystonicus, which should be considered a medical emergency. The life expectancy of people with Down syndrome increased dramatically between 1960 and 2007. . Advertising on our site helps support our mission. Anophthalmia is a birth defect where a baby is born without one or both eyes. Talk to your provider about the medications and over-the-counter products you take to make sure that they are compatible with a healthy pregnancy. SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. Multiple pages were reviewed for this article. It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected. See Quick Reference for an explanation of nomenclature. Developmental Disabilities Administration (DDA) enrollment is recommended. Bilateral anophthalmia and/or microphthalmia, Unilateral anophthalmia or microphthalmia, Genital abnormalities. . People can be born with one or two small eyes (microphthalmia) or without one or both eyes (anophthalmia). Consider referral to ophthalmo-plastic surgeon for children w/anophthalmia & extreme microphthalmia. Available from 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. In 1960, on average, persons with Down syndrome lived to be about 10 years old. . Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. 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. and their families. sox2 anophthalmia syndrome life expectancy BACKGROUND: Developmental eye anomalies, which include anophthalmia (absent eye) or microphthalmia (small eye) are an important cause of severe visual impairment in infants and young children. See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes. An ophthalmologist is a medical doctor who is trained in diagnosing and treating eye conditions and vision conditions. 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. the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. risk assessment and the use of family history and genetic testing to clarify genetic Status dystonicus, hyperpyrexia, and acute kidney injury in a patient with SOX2-anophthalmia syndrome. If the primary defect is in the mechanism of optic fissure closure, the predicted order of severity would be iris coloboma, choroidal/retinal coloboma, microphthalmia with coloboma or orbital cyst, and anophthalmia. Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel, and chromosomal microarray analysis [CMA]) and comprehensive 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. Routine karyotyping with additional FISH analysis if the proband has a deletion of 3q26.33 or other chromosome rearrangement involving 3q26.33, to determine if either parent has a balanced chromosome rearrangement involving the 3q26.33 region. HGNC; The N-terminal region is of unknown function and contains short polyglycine and polyalanine repeats. Consider need for positioning & mobility devices & disability parking placard. Taking medications that include isotretinoin (Accutane) or thalidomide during a pregnancy. CMA designs in current clinical use target the 3q26.33 region. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. The early intervention program typically assists with this transition. Br J distributors, and/or translators comply with the GeneReviews Copyright Notice and Usage Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Children may qualify for and benefit from interventions used in treatment of autism spectrum disorder, including applied behavior analysis (ABA). Inheritance was observed as de novo constitutive or de novo mosaic events, or, less frequently, from parents with constitutional duplications (see DECIPHER). the diversifying clinical signs. SOX2 disorder, caused by an intragenic SOX2 pathogenic variant or a deletion of 3q26.33 involving SOX2, is an autosomal dominant disorder. Surgery: You might need surgery to treat cataracts, coloboma or to help with the conformer fittings. It is not yet clear which of these spectra are associated with SOX2 eye disorders, as most affected individuals have very small or absent eyes, which are thus morphologically unclassifiable. In unilateral anophthalmia, one eye is missing. SOX2 anophthalmia syndrome: In addition to having no eyes or small eyes, people with this syndrome may have seizures and problems with the brain. Additionally, feeding difficulty or gastroesophageal reflux was observed in multiple individuals. In bilateral anophthalmia, both eyes are missing. Malformation and/or gray matter heterotopia of the mesial temporal structures (hippocampal and parahippocampal), pituitary hypoplasia, and agenesis or dysgenesis of the corpus callosum are core features of SOX2 disorder. Dis. "In simple terms these Chromosomes are snapped, swapped and a piece has gone missing," Sarah explains. Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy as well as infant mental health services, special educators, and sensory impairment specialists. Congenital anophthalmia and microphthalmia are rare developmental defects of the globe. 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 of 3q26.33 involving SOX2. To inform affected persons & their families re nature, MOI, & implications of, Referral to physiotherapist if evidence of motor impairment, Early referral to an experienced multidisciplinary team, Hormone replacement by pediatric endocrinologist, Hormone replacement prior to expected onset of puberty by pediatric endocrinologist, Standardized treatment w/ASM by experienced neurologist, Orthopedist/ physical medicine & rehab/ PT/OT incl stretching to help avoid contractures & falls. No phenotypes other than those discussed in this GeneReview are known to be associated with heterozygous pathogenic variants in SOX2. For those receiving IEP services, the public school district is required to provide services until age 21. 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. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. 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. The lung originates from the ventral foregut and develops into an intricate branched structure of airways, alveoli, vessels and support tissue. chromosome locus from Feb 19. Endocrinol Metab. Genital abnormalities have been described in affected individuals, especially males. Permission is Posted on June 7, 2022 by Congenital anophthalmia is a developmental disorder in which the eye does not develop or is underdeveloped. A 504 plan (Section 504: a US federal statute that prohibits discrimination based on disability) can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text. 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