Approximately 60% of affected individuals have a de novo genetic alteration. Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, 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]. Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Introduction. The following section deals with genetic W/attention to brain/pituitary malformations, optic nerve/chiasm/tract. Expand All. Direct reprogramming with SOX factors: masters of cell fate. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes ( microphthalmia ). What are the different ways a genetic condition can be inherited? david millward security; swarovski habicht 10x40; east hanover police scanner; sample complaint car accident negligence. how did edd gould get cancer. Being exposed to chemicals, like drugs or pesticides, during pregnancy. Tracheoesophageal fistula was seen in the presence or absence of esophageal atresia. An IEP provides specially designed instruction and related services to children who qualify. Anophthalmia is the absence of one or both eyes. Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG. http://www.ncbi.nlm.nih.gov/books/NBK1300/. However, its also possible to diagnose these conditions during pregnancy. 2008;2(4-5):194-9. doi: 10.1159/000152035. The majority of SOX2 mutations identified appear to arise de novo in probands ascertained through the presence of anophthalmia or microphthalmia. SOX2 anophthalmia syndrome Luisa Sanctis 2005, American Journal of Medical Genetics Part A Microphthalmia (small eye), anophthalmia (absent eye), and coloboma (failure of optic fissure closure) (MAC) are commonly associated eye malformations with a combined birth incidence of about 2 per 10,000 . While both eyes are usually affected in SOX2 anophthalmia syndrome, one eye may be more affected than the other. Tziaferi V, Kelberman D, Dattani MT. sox2 anophthalmia syndrome life expectancy. 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]. Surveillance: Routine follow up with specialists managing the vision, educational, endocrine, and neurologic manifestations. 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 In males, micropenis and cryptorchidism (often a manifestation of congenital hypogonadotropic hypogonadism) are common. The SOX2-associated ocular malformations are variable in . Bean LJH, Gripp KW, Amemiya A, editors. Both cases with patient's quality of life are noted in developing country. affected daughters. 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. 1;15(9):1413-22. doi: 10.1093/hmg/ddl064. Anophthalmia/Microphthalmia (A/M) may affect one eye with the other eye being normal, or both eyes, resulting in blindness. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant. Children may qualify for and benefit from interventions used in treatment of autism spectrum disorder, including applied behavior analysis (ABA). The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. 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. SOX2 anophthalmia syndrome: 12 new cases Contrary to popular belief, AAC devices do not hinder verbal development of speech, but rather support optimal speech and language development. Developmental preschool is center based; for children too medically unstable to attend, home-based services are provided. ethical issues that may arise or to substitute for consultation with a genetics NAA10 polyadenylation signal variants cause syndromic microphthalmia. Gorman KM, Lynch SA, Schneider A, Grange DK, Williamson KA, FitzPatrick DR, King MD. Gerth-Kahlert et al [2013], Chassaing et al [2014], Suzuki et al [2014], Mauri et al [2015], Zanolli et al [2020]. The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy. Multiple pages were reviewed for this article. For a review article see Julian et al [2017]. Symptoms include poor vision or even complete vision loss. the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. The N-terminal region is of unknown function and contains short polyglycine and polyalanine repeats. Consider need for positioning & mobility devices & disability parking placard. and their families. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, whole-exon or whole-gene deletions/duplications are not detected. demonstrating broader phenotype and high frequency of large gene deletions. Abnormal development of these structures causes the signs and symptoms of SOX2 anophthalmia syndrome. The ontology structure describes the relationship of terms to each other [Khler et al 2019]. For clarity, excerpts mutual life insurance companies list. F, Katowitz J, Schimmenti LA, Hummel M, Fitzpatrick DR, Young TL. most nfl players by state per capita; press back chairs history; how to cut rubber backed carpet tiles; cape verdean tuna recipes. The diagnosis can be made based on observation. Hearing aids may be helpful per audiologist/otolaryngologist. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. If lens induction is impaired, the predicted clinical spectrum would be congenital cataract > microphthalmia > anophthalmia. See Molecular Genetics for information on variants detected in this gene. The lung originates from the ventral foregut and develops into an intricate branched structure of airways, alveoli, vessels and support tissue. Permission is 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%. recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two . 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. Martinez E, Madsen EC. Some issues to consider: Consider evaluation for alternative means of communication (e.g., augmentative and alternative communication [AAC]) for individuals who have expressive language difficulties. Microphthalmia-anophthalmia-coloboma (MAC) was used as an umbrella term for the spectrum of severe eye malformations in early publications describing SOX2 eye disorders. Individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing that could include CMA (see Option 1), whereas those in whom the diagnosis of SOX2 disorder has not been considered or previously made by CMA may be diagnosed using comprehensive genomic testing (see Option 2). Mol Vis. This is an autosomal dominant disorder secondary to heterozygous mutations in the SOX2 gene (3q26.33). About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 syndrome. It encompasses all individuals with a SOX2 pathogenic variant who should be evaluated for medically actionable manifestations across the entire phenotypic spectrum (regardless of clinical findings that prompted molecular genetic testing). The risk to the sibs of the proband depends on the genetic status of the proband's parents: Other family members. GeneReviews staff has selected the following disease-specific and/or umbrella Esophageal atresia or stenosis was reported in nine and three individuals, respectively. Schneider A, Young TL. 2006 Jun 15;15(12):2030. Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. 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]. Multiple pages were reviewed for this article. Feb 19. Br J An oculoplastic surgeon is a surgeon who has special training with the eyes, the eye sockets and the bones that make them up. 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. status for family members; it is not meant to address all personal, cultural, or Additionally, feeding difficulty or gastroesophageal reflux was observed in multiple individuals. This gene provides instructions for making a protein that plays a critical role in the formation . University of Washington, Seattle, Seattle (WA). Almost all SOX2 pathogenic variants reported to date appear to represent heterozygous loss of function; thus, it is difficult to draw genotype-phenotype correlations. Your provider may suggest genetic testing before you get pregnant after discussing your medical history and your family history. The incidence of parental germline mosaicism in. When anophthalmia or microphthalmia is the only condition a baby has, it's called nonsyndromic or isolated. Talking to your healthcare team may help you to develop strategies to have in place to help you manage these conditions. 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. Consider referral to ophthalmo-plastic surgeon for children w/anophthalmia & extreme microphthalmia. Status dystonicus, hyperpyrexia, and acute kidney injury in a patient with SOX2-anophthalmia syndrome. Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. . 1. GeneReviews chapters are owned by the University of Washington. Mutations in the SOX2 gene cause SOX2 syndrome and is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is . 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. 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. Hum Mol Genet. sox2 anophthalmia syndrome life expectancy religious interview questions and answers sharleen spiteri ashley heath . In 1960, on average, persons with Down syndrome lived to be about 10 years old. INTRODUCTION SOX2 anophthalmia syndrome is an autosomal "Anophthalmia is the absence of one or both eyes. 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. 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. SOX2 is a single exon transcription factor previously associated with anophthalmia [ 18, 19 ], microphthalmia [ 20 ], and coloboma [ 21 ]. 5. old fashion trends that died . Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, [updated 2020 Jul 30]. Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. U.S. Department of Health and Human Services. For those w/micropenis, refer to endocrinologist for consideration of eval for hypogonadotropic hypogonadism. HGNC; The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure Male A, Davies A, Bergbaum A, Keeling J, FitzPatrick D, Mackie Ogilvie C, Berg J. Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. For information on selection criteria, click here. Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, 8 color. Researchers dont know for sure what causes anophthalmia or what causes microphthalmia. van Heyningen V, FitzPatrick DR. Mutations in SOX2 cause Genetic Testing Registry: Anophthalmia/microphthalmia-esophageal atresia syndrome, National Organization for Rare Disorders (NORD). Causes Mutations in the SOX2 gene cause SOX2 anophthalmia syndrome. Williamson KA, Yates TM, FitzPatrick DR. SOX2 Disorder. These eye problems can cause significant vision loss. 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. Microcornea: A microcornea is a cornea thats very small. Ma AS, Grigg JR, Ho G, Prokudin I, Farnsworth E, Holman K, Cheng A, Billson FA, Martin F, Fraser C, Mowat D, Smith J, Christodoulou J, Flaherty M, Bennetts B, Jamieson RV. Taking medications that include isotretinoin (Accutane) or thalidomide during a pregnancy. 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. (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133583/), Visitation, mask requirements and COVID-19 information, Coloboma: A coloboma means that tissue is missing in the eye. Inheritance was observed as de novo constitutive or de novo mosaic events, or, less frequently, from parents with constitutional duplications (see DECIPHER). Genetic counseling is the process of providing individuals and families with References 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. 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. Sox2 anophthalmia syndrome is an autosomal dominant inheritance. Novel SOX2 partner-factor domain mutation in a four-generation family. A short animation explaining MAC. SOX2 anophthalmia syndrome Clinical Information Anophthalmos-. It is also possible that complete failure of optic vesicle formation results in anophthalmia without optic nerve formation. Although normal eye development is possible in SOX2 disorder, all such individuals had extraocular defects. Ages 3-5 years. There are early intervention services to help your child learn and support groups to help your family and your child succeed. Advertising on our site helps support our mission. Ted has Sox2 anophthalmia syndrome, caused by an unbalanced translocation of Chromosomes 3 and 14 and a microdeletion of Chromosome 3. 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]. club elite rhythmic . com. Once the causative genetic alteration has been identified in an affected family member (or in a parent who has a structural chromosome rearrangement involving the 3q26.33 region), prenatal testing for a pregnancy at increased risk is possible, and preimplantation genetic testing for SOX2 disorder may be possible, depending on the specific familial genetic alteration. Pavone P, Cho SY, Pratic AD, Falsaperla R, Ruggieri M, Jin DK. Note: Testing of parental DNA may not detect all instances of somatic and germline mosaicism. Additional services can help families work together to improve life for their child. chromosome locus from Babies with SOX2 anophthalmia syndrome may have seizures, brains problems, slow growth, developmental delays and learning disabilities. 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]. 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. Identification of novel mutations and sequence variants in 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. Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. Anophthalmia is a birth defect where a baby is born without one or both eyes. Extra-ocular anomalies are common. The term "SOX2 disorder" is used in this GeneReview to refer to the complete phenotypic spectrum associated with heterozygous SOX2 pathogenic variants. 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. In addition to a pediatrician or internist, someone with either of these conditions will probably need an ophthalmologist, an ocularist and an oculoplastic surgeon. True or primary anophthalmia is incompatible with life . This condition is caused by an extra X chromosome in each of a female's cells. The early intervention program typically assists with this transition. Microphthalmia is a birth defect in which one or both eyes did not develop fully, so they are small. Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV. ED. 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. Other names for microphthalmia include small eye syndrome and microphthalmos. HPO terms that appear fewer than four times were excluded. Heterozygous loss of function. If a parent has a balanced structural chromosome rearrangement involving the 3q26.33 region, the risk to sibs is increased. Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. MedlinePlus also links to health information from non-government Web sites. 1. Frequency refers to the number of times the term was used in all included case reports. Fetal MRI. It has been called also the SOX 2 anophthalmia syndrome 3 due to the frequent mutations and/or deletions found in the SOX2 gene. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Williamson KA, Yates TM, FitzPatrick DR. SOX2 Disorder. Both the globe (human eye) and the ocular tissue are missing from the orbit. 2007 Nov;91(11):1471-6. doi: 10.1136/bjo.2007.117929. Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. Sensorineural hearing loss. Posted on June 29, 2022 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. in the fellow eye. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful. Glasses or contacts. Cleveland Clinic is a non-profit academic medical center. In the US, early intervention is a federally funded program available in all states that provides in-home services to target individual therapy needs. Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martnez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K, Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK, et al. Seven had no ocular defects noted and six had mild ocular defects, including the following: Anterior pituitary hypoplasia. In unilateral anophthalmia, one eye is missing. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. [3] Microphthalmia-associated transcription factor (MITF), located on chromosome 14q32, is associated with one form of isolated microphthalmia (MCOP1). 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. Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. 2008 Nov 1;146A(21):2794-8. doi: Two or more of these features need to be present for a clinical diagnosis only 30% of patients have all three. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. The ' SOX2 anophthalmia syndrome' encompasses sclerocornea, cataracts, persistent hyperplastic primary vitreous and optic disc dysplasia as well as non-ocular features like mental retardation, neurological abnormalities, facial dysmorphisms, post-natal growth failure, oesophageal pathology and anomalies of male genitalia [ 14, 15 ]. In . Incl motor, adaptive, cognitive, & speech/language eval, Eval for early intervention/ special education, Mobility, ADL, & need for adaptive devices, Need for ongoing PT (to improve gross motor skills) &/or OT (to improve fine motor skills). Its a specialized imaging test that may be helpful in evaluating for fetal congenital anomalies and associated complications. [Google Scholar] 10. Brain MRI. genetic conditions. 2006 May See Quick Reference for an explanation of nomenclature. In general, retina tissue that is present has some functional activity. Europe PMC is an archive of life sciences journal literature. For details about heterozygous deletions of 3q26.33 involving SOX2, see Molecular Genetics. Each child of a female proband with a constitutional. No further modifications are allowed. i told him i miss him and he said aww; la porosidad es una propiedad extensiva o intensiva SOX2 disorder should be considered in individuals with the following clinical and brain MRI findings and family history. The medical team may not be aware of the multiple ways that a rare disease can change the quality of life of the patient and family. Home; Ocular Diseases; Medicine; Ophthalmology; Anophthalmos Recommended Evaluations Following Initial Diagnosis in Individuals with SOX2 Disorder, Treatment of Manifestations in Individuals with SOX2 Disorder. Orphanet J Rare use. This is consistent with the known expression of SOX2 in the endoderm and genital ridge during development of chick and mouse embryos. 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 . 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). 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. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Ocular features almost identical to those frequently observed in, Brain features almost identical to those of, Esophageal atresia/tracheo-esophageal fistula & dystonia are not assoc w/, Bilateral microphthalmia &/or coloboma, iris hypoplasia, cataract, lens subluxation. This includes prescription products and supplements. 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. Hearing device can be helpful but no treatment is available for the eyeball malformations. The following descriptions are based on these key reports, together with all other published cases and the authors' unpublished data. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). Prevalence is approximately 1:250,000 (UK estimate) [Author, personal data], extrapolated from Shah et al [2011], with no population differences noted. Certain defects such as those of the heart, palate and esophagus can be surgically repaired. Beyond that, private supportive therapies based on the affected individual's needs may be considered. Verma AS, Fitzpatrick DR. Anophthalmia and microphthalmia. Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, This is a rare disorder that can cause a child to be born without eyeballs. Genet. 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.