sox2 anophthalmia syndrome life expectancy

Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. status for family members; it is not meant to address all personal, cultural, or Hussenet T et al: 18268498: 2008: SOX2 is frequently downregulated in gastric cancers and inhibits cell growth through cell-cycle arrest . Harding P, Brooks BP, FitzPatrick D, Moosajee M. Anophthalmia including next-generation sequencing-based approaches. Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, Anophthalmia-esophageal atresia-genital abnormalities (AEG) syndrome was previously reported to be a distinct disorder, but is now known to be associated in some individuals with heterozygous pathogenic loss-of-function variants in SOX2 [Williamson et al 2006, Zenteno et al 2006]; thus, it appears that esophageal atresia with or without tracheoesophageal fistula is a feature of SOX2 disorder and not a separate condition. genomic testing (CMA, exome sequencing, exome array, genome sequencing) depending on the phenotype. Keywords: Anopthalmia; microphthalmia; other disorders; quality of life. Permission is ED. 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]. growth mindset activities for high school pdf sox2 anophthalmia syndrome life expectancy The ontology structure describes the relationship of terms to each other [Khler et al 2019]. SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. DDA is a US public agency that provides services and support to qualified individuals. 8 color. Gerth-Kahlert et al [2013], Chassaing et al [2014], Suzuki et al [2014], Mauri et al [2015], Zanolli et al [2020]. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. professional. 3 bedroom houses for rent in fort myers. ), (https://www.marchofdimes.org/complications/anophthalmia-and-microphthalmia.aspx), (https://medlineplus.gov/genetics/condition/sox2-anophthalmia-syndrome/#references). Measurement of weight, length/height, & head circumference, Complete ophthalmologic exam by experienced pediatric ophthalmologist, Males: Assessment for micropenis &/or cryptorchidism. References Intellectual ability is highly variable, ranging from normal to profound learning disability, with the majority having moderate learning disability. The most common genetic cause for anophthalmia is mutated SOX2gene. Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations. Microphthalmia means that one eye or both eyes dont develop fully so they are small and disorganized. Fetal MRI. GeneReviews staff have not independently verified the classification of variants. You must talk to your provider if you take isotretinoin and thalidomide. This is a rare disorder that can cause a child to be born without eyeballs. Williamson KA, Yates TM, FitzPatrick DR. SOX2 Disorder. Feb 19. There are many ways to receive support: No phenotypes other than those discussed in this GeneReview are known to be associated with heterozygous pathogenic variants in SOX2. Mol Vis. If you have it, your cornea doesnt reach 10 mm in diameter even when youre an adult. Expand All. Tracheoesophageal fistula was seen in the presence or absence of esophageal atresia. Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. football players born in milton keynes; ups aircraft mechanic test. Surveillance: Routine follow up with specialists managing the vision, educational, endocrine, and neurologic manifestations. anophthalmia-esophageal-genital (AEG) syndrome. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. 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. Cavallo L, Faienza MF, Fischetto R, Achermann JC, Martinez-Barbera JP, Rizzoti K, 2006 Jun 15;15(12):2030. Intrafamilial clinical variability is observed in, If the genetic alteration identified in the proband cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is greater than that of the general population because of the possibility of parental germline mosaicism. Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV. augmentative and alternative communication, GeneReviews Copyright Notice and Usage This syndrome causes a decrease in the production of sox2 protein which regulates the other gene's activities which bind to other regions of DNA. Consider referral to ophthalmo-plastic surgeon for children w/anophthalmia & extreme microphthalmia. About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 syndrome. Available from Microphthalmia, anophthalmia and coloboma (MAC) are a group of birth eye conditions that affect 3 to 30 per 100,000 newborns. MRC Human Genetics Unit 2007 Nov . club elite rhythmic . Seven had no ocular defects noted and six had mild ocular defects, including the following: Anterior pituitary hypoplasia. Mesial temporal heterotopia is highly assoc w/future epilepsy. This may be an inappropriate acronym, as it implies that coloboma is an intrinsic part of all microphthalmia, which is not the case: coloboma has been reported but is not a common feature. 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. Sensorineural hearing loss. Endocrinol Metab. Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. For those receiving IEP services, the public school district is required to provide services until age 21. The Human Phenotype Ontology (HPO) enables use of precise, standardized, computationally accessible terms to describe phenotypic abnormalities. How do you know if your baby has anophthalmia or microphthalmia? 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). If lens induction is impaired, the predicted clinical spectrum would be congenital cataract > microphthalmia > anophthalmia. Microphthalmia-anophthalmia-coloboma (MAC) was used as an umbrella term for the spectrum of severe eye malformations in early publications describing SOX2 eye disorders. They may also. For a review article see Julian et al [2017]. 2006 Feb 23 A congenital condition is one that you have when youre born. This includes prescription products and supplements. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices. whenever the material is published elsewhere on the Web; and (iii) reproducers, Both cases with patient's quality of life are noted in developing country. F, Katowitz J, Schimmenti LA, Hummel M, Fitzpatrick DR, Young TL. Sox2 anophthalmia syndrome is caused by a mutation in the Sox2 gene that does not allow it to produce the Sox2 protein that regulates the activity of other genes by binding to certain regions of DNA. un blocked games. There are other things that may be factors in these eye conditions, including: In a newborn child, your provider can diagnose anophthalmia and microphthalmia through an examination. 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 is involved in crystallin regulation in murine [ 22] and avian models [ 23] and humans, and SOX2 mutations cause microphthalmia and cataracts [ 24, 25 ]. sox2 anophthalmia syndrome life expectancy golf lessons west seattle what race is tecna from winx club sox2 anophthalmia syndrome life expectancy 16 de junio de 2022 In the US, developmental preschool through the local public school district is recommended. 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. Penetrance appears to be complete for nonmosaic loss-of-function pathogenic variants. Less frequent variants, esp those that alter residues adjacent to Tyr160, are also assoc w/severe phenotype. HPO terms that appear fewer than four times were excluded. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications. 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. Ages 3-5 years. 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. 5. You may hear some people say that anophthalmia and microphthalmia are examples of eye birth defects.. Developmental Disabilities Administration (DDA) enrollment is recommended. [3] Microphthalmia-associated transcription factor (MITF), located on chromosome 14q32, is associated with one form of isolated microphthalmia (MCOP1). Isotretinoin treats acne. Prevalence is approximately 1:250,000 (UK estimate) [Author, personal data], extrapolated from Shah et al [2011], with no population differences noted. Verma AS, Fitzpatrick DR. Anophthalmia and microphthalmia. 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]. Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Schneider A, Young TL. For an introduction to comprehensive genomic testing click here. One of these individuals, who also had a dystonic movement disorder and unilateral strabismus as the only eye defect, had a 1.6- to 2-megabase (Mb) deletion encompassing SOX2 [Dennert et al 2017]. "My husband and I are not carriers; our tests were completely normal. usta tennis court construction specifications / why is rebecca lowe hosting olympics / sox2 anophthalmia syndrome life expectancy. Microphthalmia, Syndromic . For questions regarding permissions or whether a specified use is allowed, SOX2 disorder should be considered in individuals with the following clinical and brain MRI findings and family history. Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR. Mutations in SOX2 cause anophthalmia. sox2 anophthalmia syndrome life expectancy. Anophthalmia means that one or both eyes dont develop at all so they are missing. Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. This process is controlled by specific transcription factors, such as the SRY-related HMG-box genes SOX2 and SOX21, that are activated or repressed through . The following section deals with genetic 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. 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. Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. 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. Affected families are of Middle Eastern ethnicity. SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. The degree of visual impairment is usually severe and consistent with the degree of structural abnormality in the eye. These conditions may also occur with other eye conditions or medical problems elsewhere on the body. Without this Sox2 protein, the activity of genes that is important for the development of the eye is disrupted. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications, such as medication used to treat attention-deficit/hyperactivity disorder, when necessary. It is also possible that complete failure of optic vesicle formation results in anophthalmia without optic nerve formation. hereby granted to reproduce, distribute, and translate copies of content materials for driver refresher course for seniors; vawa cases approved 2022 immihelp; Epub 2008 People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). SOX2 syndrome is estimated to affect 1 in 250,000 individuals. 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. here. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Status dystonicus, hyperpyrexia, and acute kidney injury in a patient with SOX2-anophthalmia syndrome. 2008 Mar 24;14:583-92. chromosome locus from Facts about Anophthalmia and Microphthalmia. AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; ID = intellectual disability; MCOPS5 = microphthalmia, syndromic 5; MOI = mode of inheritance; XL = X-linked, Reis et al [2011]; Author, unpublished data, Deml et al [2016], Williamson et al [2020], ADL = activities of daily living; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance; OT = occupational therapy/therapist; PT = physical therapy/therapist, Medical geneticist, certified genetic counselor, or certified advanced genetic nurse, ASM = anti-seizure medication; DD = developmental delay; ID = intellectual disability; OT = occupational therapy; PT = physical therapy. 2006 May sox2 anophthalmia syndrome life expectancy. The information on this site should not be used as a substitute for professional medical care or advice. Reported heterozygous deletions of 3q26.33 involving SOX2 (~2%-3% of affected individuals, increasing to ~20% of affected individuals with bilateral anophthalmia/severe microphthalmia) [Williamson & FitzPatrick 2014; Author, unpublished data] include: Initial Posting: February 23, 2006; Last Update: July 30, 2020. Policy. sox2 anophthalmia syndrome life expectancy Isgho Votre ducation notre priorit All ages. GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen.hgvs.org). How are genetic conditions treated or managed? Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, Albrecht B, Ehret JK, Ldecke HJ, Suri M, Carignani G, Renieri A, Kukuk GM, Wieland T, Andrieux J, Strom TM, Wieczorek D, Dieux-Coslier A, Zink AM. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. B r J Ophthalmol 2007; 91: 1471 . Seizures were observed in 22 individuals. For clarity, excerpts 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. 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. An ocularist is a provider who can make prosthetic devices like artificial eyes and conformers. Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. 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). Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant. http://www.ncbi.nlm.nih.gov/books/NBK1300/. 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. Seattle (WA): University of Washington, Seattle; 1993-2023. This gene provides instructions for making a protein that plays a critical role in the formation . SOX2-specific laboratory technical considerations. Other names for microphthalmia include small eye syndrome and microphthalmos. 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. 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. Treatment of manifestations: Treatment usually involves a multidisciplinary team including as needed an experienced pediatric ophthalmologist, ophthalmo-plastic surgeon (for children with anophthalmia and/or extreme microphthalmia), and early educational intervention through community vision services and/or school district; educational support for school-age children; pediatric endocrinologist; pediatric neurologist; and physical therapist and occupational therapist. Some affected individuals have inherited the genetic alteration from either an affected mother (transmission from an affected father to child has not been reported to date) or an unaffected parent with germline mosaicism. Duplications encompassing SOX2, ranging from 40 kb to 104 Mb, do not appear to cause structural eye defects, but are associated with other features of SOX2 disorder: developmental delay, intellectual disability, motor delay, hypotonia, and gastroesophageal reflux. 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). Contact a health care provider if you have questions about your health. The term anophthalmia is often used interchangeably with severe microphthalmia because individuals with no visible eyeballs typically have some remaining eye tissue. The early intervention program typically assists with this transition. An IEP provides specially designed instruction and related services to children who qualify. Sibs of a proband. Sporadic and familial congenital cataracts: mutational spectrum and new diagnoses using next-generation sequencing. 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. GeneReviews chapters are owned by the University of Washington. congenital absence of the eye or eyes. In bilateral anophthalmia, both eyes are missing. In general, retina tissue that is present has some functional activity. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. National Library of Medicine. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Note: Testing of parental DNA may not detect all instances of somatic and germline mosaicism. Surgery: You might need surgery to treat cataracts, coloboma or to help with the conformer fittings. 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. mutual life insurance companies list. Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to a whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes (e.g., those described by Suzuki et al [2014]) may not be detected by these methods [Chassaing et al 2014]. The risk to other family members depends on the genetic status of the proband's parents: if a parent has the causative genetic alteration or a balanced structural chromosome rearrangement, the parent's family members may be at risk. As these features can be present in children without severe structural eye defects [Zenteno et al 2006, Dennert et al 2017], they are not restricted to individuals with the full AEG syndrome [Williamson et al 2006]. 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). Its a question of managing these conditions and any other conditions that might occur with them. An oculoplastic surgeon is a surgeon who has special training with the eyes, the eye sockets and the bones that make them up. make informed medical and personal decisions. 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. Approximately 60% of affected individuals have a de novo genetic alteration. As the lung develops, cells become specified and differentiate into the various cell lineages. Concerns about serious aggressive or destructive behavior can be addressed by a pediatric psychiatrist. Babies with SOX2 anophthalmia syndrome may have seizures, brains problems, slow growth, developmental delays and learning disabilities. Sox2 anophthalmia syndrome is an autosomal dominant inheritance. ABA therapy is targeted to the individual child's behavioral, social, and adaptive strengths and weaknesses and typically performed one on one with a board-certified behavior analyst. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. 2006 Feb 23 [Updated 2020 Jul 30]. SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. Genetic Testing Registry: Anophthalmia/microphthalmia-esophageal atresia syndrome, National Organization for Rare Disorders (NORD). It mostly happens in the. In a small number of cases, people with SOX2 anophthalmia syndrome have inherited the altered gene from an unaffected parent who has a SOX2 mutation only in their sperm or egg cells. SOX2 anophthalmia syndrome: 12 new cases According to some estimates, these conditions (anophthalmia and microphthalmia) affect about 1 in 5,200 to 1 in 10,000 infants born each year in the U.S. The genetic architecture of microphthalmia, anophthalmia and coloboma. Triple X syndrome. It can also cause seizures, brain problems, and delayed growth. Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, Kherani F, Katowitz J, Schimmenti LA, Hummel M, Fitzpatrick DR, Young TL. The absence of this protein disrupts the activity of genes that are essential for the development of the eyes and other parts of the body. The majority of affected individuals have some evidence of hypothalamic-pituitary axis dysfunction when detailed measurement of growth hormone and gonadotropins is undertaken [Tziaferi et al 2008]. 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]. Male genital abnormalities include undescended testes (cryptorchidism) and an unusually small penis (micropenis). Lovell-Badge R, Robinson IC, Gerrelli D, Dattani MT. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. SOX1 (OMIM 602148), SOX2, and SOX3 (OMIM 313430) belong to the B1 subfamily and are expressed in various phases of embryonic development and cell differentiation, in which . 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 . Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. Additional services can help families work together to improve life for their child. Pilz RA, Korenke GC, Steeb R, Strom TM, Felbor U, Rath M. Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations. 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. Make sure you get prenatal care (care before birth) early and consistently. Anophthalmos-. No further modifications are allowed. Congenital anophthalmia and microphthalmia are rare developmental defects of the globe. 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. as in some patients with SOX2 . Glasses or contacts. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. 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. SOX2 has been implicated in a substantial number (10-15%) of cases and in many other cases failure to develop the ocular lens often results in microphthalmia. information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them

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