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14 Possible Causes for Agenesis or Hypoplasia of the Corpus Callosum, Craniosynostosis, Wide Space Between the First and Second Toe

  • Craniofrontonasal Dysplasia

    callosum hypoplasia or agenesis, and developmental delay but without severe mental deficiency.[karger.com] Affected females had hypertelorism, broad nasal root, frontal bossing, craniosynostosis, syndactyly of toes and fingers, and vertical grooving of nails.[ncbi.nlm.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Dubowitz Syndrome

    callosum agenesis-intellectual disability syndrome Spinocerebellar ataxia 15 MAN1B1-CDG Ichthyosis cheek eyebrow syndrome Wolf-Hirschhorn syndrome Intellectual disability[checkrare.com] A "new" clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis.[ncbi.nlm.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Seckel Syndrome Type 2

    Here, we present three new cases of Seckel's syndrome showing different malformations of cortical development (one gyral hypoplasia, one macrogyria and partial corpus callosum[journals.sagepub.com] […] deficits Intellectual impairment Mental impairment [ more ] 0100543 Convex nasal ridge Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Craniosynostosis[rarediseases.info.nih.gov] […] and dental anomalies IL11RA Craniosynostosis type 1 TWIST1 Craniosynostosis type 2 MSX2 Craniosynostosis type 3 TCF12 Craniosynostosis type 4 ERF Craniosynostosis type 6[centogene.com]

  • Familial Congenital Nasolacrimal Duct Obstruction

    callosum agenesis-abnormal genitalia syndrome Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom Microcephaly-corpus[orpha.net] […] syndrome,” and (c) simple or single craniosynostosis.[entokey.com] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Cutis Laxa

    Brain malformations include corpus callosum hypoplasia or agenesis, and polymicrogyria.[cmgg.be] , MEGF8, MSX2, POR, RAB23, RECQL4, SKI, SLC25A24, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1 Del Dup NGS Craniosynostosis, type 1 TWIST1 Sanger Del Dup NGS Crouzon[ctgt.net] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br]

  • Adactyly of Foot

    High, narrow palate Brachydactyly Fair hair Downslanted palpebral fissures Hemivertebrae Protruding ear Specific learning disability Agenesis of corpus callosum Microphthalmia[mendelian.co] Other skeletal anomalies (craniosynostosis, syndactyly, brachydactyly, oligodactyly and ectrodactyly) may also be present.[dysnet.org] Synonyms:Anterior Polydactyly Replaces: Anterior Duplication of the Limb, Tibial Polydactyly Foot, Preaxial Polydactyly of Subjective: A widely spaced gap between the first[quizlet.com]

  • Greenberg Dysplasia

    […] of the corpus callosum with peripheral neuropathy (Andermann syndrome) SRPX2 Rolandic epilepsy, mental retardation, and speech dyspraxia TMEM5 Muscular dystrophy-dystroglycanopathy[genda.com.ar] 1 CRS1 123100 Genetic Test Registry Craniosynostosis 2 Craniosynostosis, Boston-Type CRS2 CSB 604757 Genetic Test Registry Craniosynostosis 5, Susceptibility To CRS5 615529[ukgtn.nhs.uk] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Genee-Wiedemann Syndrome

    […] of the iris Macular hypoplasia Bicornuate uterus Diaphragmatic eventration Prominent supraorbital ridges Abnormality of the uterus Partial agenesis of the corpus callosum[mendelian.co] […] microtia, skin tags, significant developmental delay, cleft palate EFTUD2 gene on chromosome 17q21 Baller Gerold syndrome (OMIM# 218600) Abnormally shaped skull, coronal craniosynostosis[gynecology-obstetrics.imedpub.com] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com]

  • Trisomy 10p

    In addition, congenital heart defects, hypoplasia or agenesis of the corpus callosum and in affected males, cryptorchidism and micropenis, have also been observed.[molecularcytogenetics.biomedcentral.com] Med Klin (1968) 0.76 Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "[pubrank.carbocation.com] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com]

  • Short Stature - Wormian Bones - Dextrocardia Syndrome

    callosum agenesis-intellectual disability syndrome Spinocerebellar ataxia 15 MAN1B1-CDG Ichthyosis cheek eyebrow syndrome Wolf-Hirschhorn syndrome Intellectual disability[checkrare.com] Craniosynostosis  Primary craniosynostosis: a primary defect of ossification  Secondary craniosynostosis: a failure of brain growth, more commonly  Syndromic craniosynostosis[slideshare.net] Wide spacing between first and second toes ( Matthews and Robin, 2011 ). 3. Skin. a. Short neck with excess nuchal skin. C. Associated findings. 1. Prematurity. 2.[nursekey.com]

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