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1,952 Possible Causes for Agenesis of Corpus Callosum, Dystrophic Toenail, Proximally Placed Thumb

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    toenail Bilateral cleft lip Pili torti Anodontia Dystrophic fingernails Abnormality of hair texture Abnormality of the philtrum Cutaneous syndactyly of toes Progressive hypotrichosis[] […] of the corpus callosum.[] Callosum, Agenesis Of, With Abnormal Genitalia Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardationsyndrome Craniofacial Dysmorphism, Skeletal Anomalies,[]

  • Aicardi's Syndrome

    Aicardi's syndrome, which is characterized by agenesis of the corpus callosum, specific chorioretinal abnormalities, and defects of vertebrae and ribs, is considered a probable[] Abstract Aicardi's syndrome is the association of three main features: infantile spasms, chorioretinopathia with lacunae and agenesis of the corpus callosum.[] A 12-year-old mentally handicapped female has all the characteristics of the syndrome: agenesis of the Corpus callosum; female infant with mental handicap, epilepsy, characteristic[]

    Missing: Dystrophic Toenail
  • 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[] placed thumbs.[] She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral[]

    Missing: Dystrophic Toenail
  • Mowat-Wilson Syndrome

    […] of the corpus callosum.[] […] that did not require surgery, ulnar deviation of the hands, proximally placed thumbs, delayed bone age, significant scoliosis, and camptodactyly [ Mowat et al 2003, Adam[] […] that did not require surgery, ulnar deviation of the hands, proximally placed thumbs, delayed bone age, significant scoliosis, and camptodactyly [ Mowat et al 2003 , Adam[]

    Missing: Dystrophic Toenail
  • Partial Monosomy 18q

    Milder forms include absent olfactory tracts and bulbs, agenesis of corpus callosum, hypopituitarism and minor facial features (hypo- or hypertelorism, flat nasal bridge)[] placed thumbs 33 Chorea 3 Nystagmus 30 Gap between 1st & 2nd toe 3 Palate abnormality 30 Low posterior hairline 3 Cleft 12 Scoliosis 3 High arched 15 Strawberry birthmark[] Severe malformations of the brain associated with facial features such as cyplopia, cebocephaly, premaxillary agenesis, bilateral cleft lip and palate are present in 10–15[]

    Missing: Dystrophic Toenail
  • BOD Syndrome

    In the study by Sweeney et al, 67% of nail patella patients demonstrated toenail changes. The most common toenail finding was a small and dystrophic 5th toenail.[] […] of corpus callosum Hyperinsulinemia Upper airway obstruction Osteopenia Kyphoscoliosis Dicarboxylic aciduria Increased body weight Irregular dentition Short sternum Abnormality[] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[]

  • Anonychia Congenita Totalis

    toenail Furrowed tongue Thromboembolism Dystrophic fingernails Abnormality of the fingernails Renal insufficiency Meningitis Hypoglycemia Congenital bullous ichthyosiform[] Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum,[] Finally, a transparent splint of an aspiration tube was placed under the proximal nail fold and over the nail bed, then it was sutured to lateral nail walls.[]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    […] fingernails Aplasia/Hypoplasia of the eyebrow Keratoconjunctivitis sicca Dystrophic toenail Cerebellar hypoplasia Abnormal dermatoglyphics Cutis laxa Pointed chin Accelerated[] […] of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome. ( 7606318 ) Temple I.K....Curry C. 1995 14 Biochemical studies in[] PMID 9738870 Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype.[]

    Missing: Proximally Placed Thumb
  • Congenital Iris Coloboma

    MAPGROUP 3 6011000124106 MAPTARGET 6011000124106 MAPADVICE IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE M26.09 MAP OF SOURCE[] , short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1 st –2 nd finger syndactyly, distal phalanges of fingers hypoplasia, camptodactyly, delayed[] Associations CHARGE syndrome encephalocoele agenesis of the corpus callosum Jacobsen syndrome Treacher-Collins syndrome : rare Roberts syndrome : rare Gorlin-Goltz syndrome[]

    Missing: Dystrophic Toenail
  • Gorlin-Chaudhry-Moss Syndrome

    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.[] […] of the corpus callosum Cleft lip/palate ectodermal dysplasia Cartilage hair hypoplasia Witkop syndrome Uncombable hair, retinal pigmentary dystrophy, dental anomalies, brachydactyly[]

    Missing: Dystrophic Toenail

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