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544 Possible Causes for Agenesis of Corpus Callosum, Failure to Thrive, Thin Limbs

  • Wolf-Hirschhorn Syndrome

    Accordingly, prenatal-onset growth retardation and failure to thrive have been found to result from haploinsufficiency for a 4p gene located between 0.4 and 1.3 Mb, whereas[ncbi.nlm.nih.gov] […] of the corpus callosum, bilateral renal hypoplasia, and two atrial septal defects.[ncbi.nlm.nih.gov] Clinical manifestations of WHS include intrauterine growth restriction, failure to thrive in the neonatal period that is present simultaneously with hypotonia, typical "Greek[ncbi.nlm.nih.gov]

  • Marshall-Smith Syndrome

    Limbs were slender with very little muscle mass, wrists in flexion, long thin fingers, and toes with limitation on the size of the phalanges of the third and fourth fingers[nature.com] We describe a 5 year old patient with this rare syndrome, who has optic atrophy and agenesis of the corpus callosum, but has no respiratory problems so far.[ncbi.nlm.nih.gov] It is hoped that the etiology of the syndrome will be discovered as more cases are recognized and reported by pediatricians caring for infants with failure to thrive, advanced[ncbi.nlm.nih.gov]

  • Sanjad-Sakati Syndrome

    […] floppy earlobes, abnormal skeletal survey, developmental delay,hypoparathyroidism, hypocalcemia, and hyperphosphatemia Not available Belgium 2 Facial dysmorphism, short limbs[alliedacademies.org] We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia.[ncbi.nlm.nih.gov] Partial Agenesis of Corpus Callosum in Sanjad-Sakati Syndrome (p-ACC) To send this article to your Dropbox account, please select one or more formats and confirm that you[cambridge.org]

  • Lenz-Majewski Syndrome

    Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features.[mendelian.co] The disorder is characterized by failure to thrive and mental retardation.[doi.org] […] of corpus callosum 0001274 Bifid uvula 0000193 External genital hypoplasia Underdevelopment of external reproductive organs 0003241 High, narrow palate Narrow, high-arched[rarediseases.info.nih.gov]

  • CAMFAK Syndrome

    […] upper lips - No Yes/Yes Limb spasticity Yes Yes Yes/- Broad nasal root Yes Yes Yes/Yes Prominent ears Yes Yes Yes/Yes Micropenis Yes No Yes/Yes Cryptorchidism/small testes[iamg.in] Diseases related to Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing: Human phenotypes[malacards.org] They often have long limbs with joint contractures (inability to relax muscle at a joint), a hunched back ( kyphosis ), and they may be very thin ( cachetic ), due to a loss[ipfs.io]

  • Growth Failure

    Growth and skeletal asymmetry of the limbs manifested as hemihypertophy, clinodactyly of the fifth finger, syndactyly of second and third toes were also impartant criteria[medcraveonline.com] Presentation on theme: "Faltering growth(failure to thrive)"— Presentation transcript: 1 Faltering growth(failure to thrive) refers to not only failure of growth(suboptimal[slideplayer.com] Cranial defects may present with wide heads, flat noses, cleft lip/palate, hypertelorism, agenesis of the corpus callosum, hypopituitarism, posterior pituitary ectopia, basal[f1000research.com]

  • Autosomal Recessive Primary Microcephaly Type 10

    Cardiomyopathy Myopathy Failure to thrive Absence seizures Postnatal growth retardation Intrauterine growth retardation Cerebral cortical atrophy Patent ductus arteriosus Thin[mendelian.co] […] ribs-tubular bones-dysmorphism syndrome Thoracolaryngopelvic dysplasia Thoracomelic dysplasia Thrombocythemia with distal limb defects Thrombocytopenia-absent radius syndrome[se-atlas.de] Of The Corpus Callosum With Peripheral Neuropathy ... ...[familydiagnosis.com]

  • Wiedemann-Rautenstrauch Syndrome

    His limbs were thin. Muscle mass appearedprominent, as did his hands and feet. The patient had asevere and generalized decit of subcutaneous tissue.[docslide.com.br] Dandy Walker malformation and ventriculomegaly, basal ganglia calcification, and agenesis of corpus callosum were reported.[rarediseases.org] […] to thrive, short stature, widely open cranial sutures, a progeria-like appearance, hypotonia, pseudohydrocephalus, lipoatrophy, and mental retardation.[whonamedit.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    limbs q11.21 q21.11 6199974, 2194394, 1456281 patient 3 [6199974], case 4 [2194394], case 5 [1456281] Edit 97 3376995 46, XY, del(7)(q11.22q21.1) hoarse cry, hypertonia,[chr7.org] The parents’ research also indicated that half of the children have brain abnormalities, such as Hypoplasia of the brain and/or partial agenesis of the corpus callosum (55%[bohring-opitz.org] […] to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems[aafp.org]

  • Smith Lemli Opitz Syndrome

    A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs.[icd10data.com] Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation.[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]

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