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89 Possible Causes for Agenesis of Corpus Callosum, Obesity, Proximally Placed Thumb

  • Smith Lemli Opitz Syndrome

    The occurrence of hypercortisolism, hypothyroidism, obesity, and complex cyanotic cardiac lesion in association with SLOS has not been described earlier.[ncbi.nlm.nih.gov] […] of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis[ncbi.nlm.nih.gov] placed thumbs.[orpha.net]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    […] low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity[mendelian.co] […] of the corpus callosum.[nature.com] Holoprosencephaly 5 Hypospadias-Intellectual Disability, Goldblatt Type Syndrome Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome Intellectual Disability-Obesity-Brain[familydiagnosis.com]

  • Mowat-Wilson Syndrome

    Half of the patients are overweight but only 1/5 are obese and this is predominantly truncal obesity.[jmg.bmj.com] […] of the corpus callosum.[symptoma.com] […] 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[ncbi.nlm.nih.gov]

  • Partial Monosomy 18q

    The might also have seizures, low muscle tone (hypotonia), speech and language delays, obesity, and short stature.[malacards.org] Milder forms include absent olfactory tracts and bulbs, agenesis of corpus callosum, hypopituitarism and minor facial features (hypo- or hypertelorism, flat nasal bridge)[ojrd.biomedcentral.com] 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[labmed.hallym.ac.kr]

  • Biemond Syndrome Type 2

    […] of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies.[books.google.de] MAPGROUP 3 6011000124106 MAPTARGET 6011000124106 MAPADVICE IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE M26.09 MAP OF SOURCE[bioportal.bioontology.org] Clinodactyly, abnormal palmar crease, radial head dislocation, difficulty in elbow extension, short first metacarpal, proximally placed thumb, bunion, partial syndactyly,[entokey.com]

  • Syndromic Microphthalmia Type 10

    , polydactyly, and intellectual disabilities) 759.89 Barth 759.89 basal cell nevus 759.89 Beckwith (-Wiedemann) 759.89 Biedl-Bardet (obesity, polydactyly, and intellectual[icd9data.com] […] of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures.[malacards.org] 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[bmcmedgenet.biomedcentral.com]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    Symbol Name Synonyms Organism MEHMO mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome Homo sapiens WikiGenes edit this[ihop-net.org] […] of corpus callosum X-linked recessive inheritance Cerebellar hypoplasia Cervical instability Congenital onset Respiratory distress Microphthalmia Nail dystrophy Pulmonary[mendelian.co] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • Nelson Syndrome

    […] of several sources: ACTH-dependent adrenocortical hyperplasia or tumor, ectopic ACTH-secreting tumor, or excessive administrations of steroids; characterized by trunkal obesity[medical-dictionary.thefreedictionary.com] […] of the corpus callosum (occurs in 10% of cases) musculoskeletal anomalies shortened 4 th metacarpal bones bifid rib or other rib abnormality (fusion, partial agenesis, etc[radiopaedia.org] placed thumbs or abnormal curvature (clinodactyly) of the fifth fingers) are present in 65–85% 3, 115, 116, 117, 118.[nature.com]

  • Gorlin-Chaudhry-Moss Syndrome

    , polydactyly, and intellectual disabilities) 759.89 Barth 759.89 basal cell nevus 759.89 Beckwith (-Wiedemann) 759.89 Biedl-Bardet (obesity, polydactyly, and intellectual[icd9data.com] CT scan identified agenesis of the corpus callosum. At age 21 she had moderate mental retardation and spoke in short phrases with unclear speech.[nature.com] Otopalatodigital syndrome type I (OPD1): Digital anomalies including short, often proximally placed thumbs with hypoplasia of the distal phalanges.[vivavoceoralmedicineradiology.com]

  • Acrootoocular Syndrome

    Macrosomia, obesity, macrocephaly, ocular abnormalities Get Update Overview MOMO syndrome is a rare syndrome that was named for the characteristics of Macrocephaly, Obesity[diseaseinfosearch.org] […] of the Corpus Callosum Agyria Aicardi syndrome Alexander syndrome Alper's syndrome Amelia Angelman syndrome Aniridia Anophthalmia/Microphthalmia 2.[de.slideshare.net] Clinodactyly, abnormal palmar crease, radial head dislocation, difficulty in elbow extension, short first metacarpal, proximally placed thumb, bunion, partial syndactyly,[entokey.com]

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