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84 Possible Causes for Agenesis of Corpus Callosum, Proximally Placed Thumb, Skeletal Dysplasia

  • Smith Lemli Opitz Syndrome

    […] of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis[] […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebrofacial dysplasia Cerebro-oculo-facio-skeletal syndrome Charge association Charge syndrome Child syndrome[] placed thumbs.[]

  • Gorlin-Chaudhry-Moss Syndrome

    Syndrome Clouston Syndrome Coffin-Siris Syndrome Cooks Syndrome Corneodermatoosseous Syndrome Cranioectodermal Dysplasia 1 Deafness with Anhidrotic Ectodermal Dysplasia Deafness[] CT scan identified agenesis of the corpus callosum. At age 21 she had moderate mental retardation and spoke in short phrases with unclear speech.[] Otopalatodigital syndrome type I (OPD1): Digital anomalies including short, often proximally placed thumbs with hypoplasia of the distal phalanges.[]

  • Atelosteogenesis Type 2

    Thanatophoric dysplasia and achondrogenesis account for 62% of all lethal skeletal dysplasias. Achondroplasia is the most common nonlethal skeletal dysplasia.[] […] and ocular abnormalities, see Aicardi syndrome agenesis of corpus callosum with neuronopathy, see Andermann syndrome agenesis of corpus callosum with peripheral neuropathy[] The fingers are short, and the thumb is both proximally placed and deviated to the radial side (the so-called “hitchhiker thumb”).[]

  • Goldberg-Shprintzen Syndrome

    Individuals with the syndrome exhibit ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal ([] Since agenesis of the corpus callosum is the only MWS feature that can be detected prenatally, molecular screening of the ZEB2 gene in prenatal isolated agenesis of the corpus[] placed thumbs, phalangeal hypotubulation and sclerosis, hip subluxation, femur fracture, genu recurvatum, talipes equinovarus, metatarsus adductus, congenital bowing of the[]

  • Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

    The main features are infantile spasms, agenesis of the corpus callosum, and chorioretinopathy.[] Definition A disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases.[] Since the recognition of the disorders of the fibroblast growth factor receptor (FGFR), the classification of the skeletal dysplasia (see Achondroplasia below) has been completely[]

  • Weyers Ulnar Ray - Oligodactyly Syndrome

    Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment,[] Distal arthrogryposis SCOT deficiency Autosomal dominant intermediate Charcot-Marie-Tooth Molybdenum cofactor deficiency Corpus callosum agenesis double urinary collecting[] […] radial head dislocation Head And Neck Face: long, narrow face Head And Neck Eyes: hypotelorism Skeletal Hands: oligodactyly absent thumb proximally placed thumb Skeletal[]

  • Dyssegmental Dysplasia-Glaucoma Syndrome

    The skeletal dysplasias The skeletal dysplasias are disorders associated with a generalized abnormality in the skeleton.[] […] of corpus callosum Acrania Hypoplasia of the pons Cerebral cortical atrophy Retinal dysplasia Capillary hemangioma Congenital onset Behavioral abnormality Severe muscular[] placed thumb (Khoury et al. 1983).[]

  • X-Linked Syndromic Intellectual Disability Type Schimke

    […] of corpus callosum - See L1 syndrome X-linked partial corpus callosum agenesis - See L1 syndrome X-linked periventricular heterotopia X-linked progressive combined variable[] , skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) {717945001 , SNOMED-CT } Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder[] placed thumb; see 192350).[]

  • Neurogenic Arthrogryposis Multiplex Congenita

    The spectrum of diagnosis found encompasses agyria-pachygyria, neuronal migration abnormalities, agenesis of the corpus callosum, hypoplasia of the brainstem and cerebellum[] These include neuromuscular disorders, skeletal dysplasias, multiple congenital contracture anomaly syndromes, and aneuploidy syndromes that have in common periods of decreased[] placed thumbs HPO:9623 – 2 1 – – 1 3/5 Camptodactyly HPO:1215 – 5 2 – – 1 3/5 Ulnar deviation of the finger HPO:9465 – 3 1 – – 1 3/5 Proximally placed toes HPO:1780 – 4 1[]

  • Syndromic Microphthalmia Type 10

    […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebrofacial dysplasia Cerebro-oculo-facio-skeletal syndrome Charge association Charge syndrome Child syndrome[] […] of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures.[] placed thumbs, short distal phalanges - - - 1B (sister of 1A) 16q11.1q12.1 550 band karyotype ND Proximally placed thumbs, short distal phalanges - - 2 16q11.2q21 CGH/FISH[]

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