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2,129 Possible Causes for Congenital Eye Anomaly, Holoprosencephaly, Syndactyly between Adjacent Toes

  • Septo-Optic Dysplasia

    In lobar holoprosencephaly which is the least severe form of other holoprosencephalies (alobar and semilobar), there is always varying degrees of fusion of the two cerebral[em-consulte.com] Other ocular malformations were anterior segment dysgenesis in the right eye and congenital cataract or lens abnormality in the left eye.[ncbi.nlm.nih.gov] G N Dutton, Congenital disorders of the optic nerve: excavations and hypoplasia, Eye, 10.1038/sj.eye.6701545, 18, 11, (1038-1048), (2004).[oadoi.org]

    Missing: Syndactyly between Adjacent Toes
  • Craniosynostosis Type 3

    Examples of these defects include hydrocephalus, holoprosencephaly, multicystic renal dysplasia and severe hydrops.[sonoworld.com] . – Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 (MDDGA7): caused by ISPD mutation.[bredagenetics.com] ., holoprosencephaly, microcephaly, shunted hydrocephalus, encephalocele) Exposure of fetus (e.g., valproic acid, phenytoin) Mucopolysaccharidosis (e.g., Hurler’s syndrome[aafp.org]

  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] The spectrum of these anomalies is wide, ranging from alobar holoprosencephaly to microforms, such as isolated single central medial incisive, or cleft palate.[atlasgeneticsoncology.org] Chen, A “new” lethal multiple congenital anomaly syndrome: Joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs[doi.org]

  • Frontonasal Dysplasia

    Alobar Holoprosencephaly Sequence, Anophthalmia, Preauricular Skin Tags, and Pulmonary Hypoplasia. A Previously Undescribed Condition.[medsci.org] Abstract Frontonasal dysplasia is a rare congenital anomaly affecting the eyes, nose and forehead, and occurs sporadically in most of the cases.[ncbi.nlm.nih.gov] Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Congenital Malformation

    740 Anencephalus and similar anomalies 741 Spina bifida 742 Other congenital anomalies of nervous system 743 Congenital anomalies of eye 744 Congenital anomalies of ear face[icd9data.com] Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet. 1999 Jun;22(2):196-8.[humangenetik-regensburg.de] Table 4 Frequency (and percentage of the total) of malformations by affected organ systems in subjects with multiple congenital anomalies.[bmcoralhealth.biomedcentral.com]

    Missing: Syndactyly between Adjacent Toes
  • TORCH Syndrome

    CT of the brain demonstrated microcephaly, hydranencephaly, lissencephaly, lobar holoprosencephaly, and multiple, coarse, periventricular calcifications ( Figure 2c ).[nature.com] Anterior segment anomalies and retinal dysplasia have been described with muscle-eye-brain disease, Walker–Warburg syndrome, and Fukiyama congenital muscular dystrophy where[nature.com]

    Missing: Syndactyly between Adjacent Toes
  • Patau Syndrome

    Nervous system anomalies: 39% Eye anomalies: 30% Polydactyly: 44% Orofacial cleft: 45% The most common causes of death in Patau syndrome are cardiopulmonary arrest (69%),[emedicine.com] Alobar holoprosencephaly and Trisomy 13 (Patau syndrome). Autopsy and Case Reports, 3 (2), 5-10.[revistas.usp.br] Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Anophthalmos

    […] similar: term and or Exposure Water Pollutants, Chemical Vitamin A Tretinoin Methoprene Insecticides Environmental Pollutants Outcome Anophthalmos Craniofacial Abnormalities Holoprosencephaly[canarydatabase.org] Four children with severe congenital eye anomalies are described of which three had related symptoms.[ncbi.nlm.nih.gov] Cortical gyral simplification Holoprosencephaly Cortical dysplasia Need help with a diagnosis?[mendelian.co]

    Missing: Syndactyly between Adjacent Toes
  • CHARGE Syndrome

    Holoprosencephaly and related midline cerebral anomalies: a review. J Child Neurol 1986 ; 1 : 3 –18 Cohen MM Jr. Perspectives on holoprosencephaly. Part I.[ajnr.org] A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and[ncbi.nlm.nih.gov] CHARGE association acronym denoting a particular grouping of congenital anomalies found together more frequently than otherwise expected.[medical-dictionary.thefreedictionary.com]

    Missing: Syndactyly between Adjacent Toes
  • Congenital Cataract

    Pseudotrisomy 13 syndrome (holoprosencephaly-polydactyly) In this case we have not sent 7-DHC level.[omicsonline.org] Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKRP-Related MDDGA5 613153[ukgtn.nhs.uk] & Experimental Ophthalmology, Congenital Anomalies, Congenital Heart Disease, World journal for pediatric & congenital heart surgery[imedpub.com]

    Missing: Syndactyly between Adjacent Toes