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88 Possible Causes for Agenesis of Corpus Callosum, Proximally Placed Thumb, Syndactyly

  • Smith Lemli Opitz Syndrome

    At autopsy the infant had hydrops, unusual face, cleft palate, genital abnormalities, Dandy-Walker malformation, and absence of toe syndactyly.[] […] of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis[] placed thumbs.[]

  • Gorlin-Chaudhry-Moss Syndrome

    Other features include brachydactyly, syndactyly, ...[] 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.[]

  • Mowat-Wilson Syndrome

    0000204 Constipation 0002019 Deep plantar creases Deep wrinkles in soles of feet 0001869 Ectopic kidney Abnormal kidney location Displaced kidney [ more ] 0000086 Finger syndactyly[] […] 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[]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    […] of the corpus callosum.[] ;clped1; cleft lip/palate-ectodermal dysplasia syndrome; cleft lip/palate-syndactyly-pili torti syndrome; syndactyly-ectodermal dysplasia-cleft/lip palate; zlotogora-zilberman-tenenbaum[] Stature Syndrome Blepharophimosis With Ptosis, Syndactyly, And Short Stature Bohring-Opitz Syndrome Brachydactyly-Preaxial Hallux Varus Syndrome Brachytelephalangy-Dysmorphism-Kallmann[]

  • Dubowitz Syndrome

    Corpus Callosum 9 terms Aphalangia 26 terms Heart 28 terms seizures THIS SET IS OFTEN IN FOLDERS WITH... 23 terms Cataracts 8 terms Syndromes with Coloboma 25 terms Syndromes[] An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal retardation, microcephaly, sparse hair, toe syndactyly, and characteristic facial[] Hand size was 50th percentile for 4 years with brachycUnodactyly and proximally placed thumbs. Generalized limitation of joint mobility was present.[]

  • Partial Monosomy 18q

    […] relatively constant and include 1 : decreased growth craniofacial dysmorphism midface hypoplasia frontal bossing "carp-like" mouth genital hypoplasia limb abnormalities clubfoot syndactyly[] 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[]

  • Adactyly of Foot

    […] postaxial polydactyly Polydactyly of a triphalangeal thumb, bilateral Polydactyly of a triphalangeal thumb, unilateral Radial hemimelia, bilateral Radial hemimelia, unilateral Syndactyly[] […] of the corpus callosum; mental retardation (61 %) ocular abnormalities (59 %): microphthalmia, coloboma, choristomas, epibulbar tumors cardiovascular abnormalities (12 %)[] placed thumbs or abnormal curvature (clinodactyly) of the fifth fingers) are present in 65–85% 3 , 115 , 116 , 117 , 118 .[]

  • Acrootoocular Syndrome

    […] of the Corpus Callosum Agyria Aicardi syndrome Alexander syndrome Alper's syndrome Amelia Angelman syndrome Aniridia Anophthalmia/Microphthalmia 2.[] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[] Clinodactyly, abnormal palmar crease, radial head dislocation, difficulty in elbow extension, short first metacarpal, proximally placed thumb, bunion, partial syndactyly,[]

  • Syndromic Microphthalmia Type 10

    […] spinal deformities, high arched palate, pectus excavatum, absent or dysplastic clavicles (accounting for the narrow or sagging shoulders), and digital anomalies including syndactyly[] […] 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[]

  • Goldberg-Shprintzen Syndrome

    Affiliated tissues include eye , brain and heart , and related phenotypes are hypertelorism and finger syndactyly Disease Ontology : 12 A syndrome characterized by intellectual[] 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[]

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