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571 Possible Causes for Agenesis of Corpus Callosum, Failure to Thrive, Short Philtrum

  • Marshall-Smith Syndrome

    […] distal phalanx of finger Short outermost finger bone 0009882 Short mandibular rami 0003778 Short philtrum 0000322 Short sternum 0000879 Sporadic No previous family history[rarediseases.info.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] 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]

  • Wolf-Hirschhorn Syndrome

    The facial dysmorphic features in the present case were dolichocephaly; high forehead; large rectangular nose continuing to the eyebrows; hypertelorism; short philtrum; carp-shaped[ncbi.nlm.nih.gov] 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]

  • Acrocallosal Syndrome

    […] describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short[ncbi.nlm.nih.gov] A seven year old female with severe developmental delays, failure to thrive and growth retardation, infantile spasms, a cardiac vascular ring and right-sided aortic arch,[ncbi.nlm.nih.gov] The diagnosis of acrocallosal syndrome was arrived at after neuroimaging showed agenesis of corpus callosum with interhemispheric cysts.[ncbi.nlm.nih.gov]

  • Lissencephaly

    There is an elongated philtrum with rounded pillars.[nature.com] Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation.[ninds.nih.gov] MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum.[ncbi.nlm.nih.gov]

  • Schinzel-Giedion Syndrome

    philtrum 0000322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Splenopancreatic fusion 0032075 Stiff elbow Elbow stiffness 0025259 Vocal cord paralysis[rarediseases.info.nih.gov] […] to thrive.[checkorphan.org] Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy.[ncbi.nlm.nih.gov]

  • Fetal Warfarin Syndrome

    Close-up of the face of the same infant shows the short nose, absence of the philtrum, and thin vermilion border of the upper lip.[rrnursingschool.biz] […] to thrive Numerology Chaldean Numerology The numerical value of fetal warfarin syndrome in Chaldean Numerology is: 6 Pythagorean Numerology The numerical value of fetal warfarin[definitions.net] […] of corpus callosum microcephaly microphthalmia congenital cataracts cardiovascular congenital cardiac anomalies Warfarin is a teratogenic drug.[radiopaedia.org]

  • Mowat-Wilson Syndrome

    An individual with MWS may also have: Deep set, widely spaced eyes; Characteristic ear shape with a turned-up ear lobe; Broad nasal tip and short philtrum (the vertical central[specialeducationalneeds.co.uk] […] of the corpus callosum.[symptoma.com] Typical facial features that include: deep-set, widely-spaced eyes thick eyebrows characteristic ear shape with a turned-up ear lobe broad nasal tip and short philtrum (the[contact.org.uk]

  • Velocardiofacial Syndrome

    Poor feeding and failure to thrive may result secondary to severe cardiac anomalies and congestive cardiac failure.[symptoma.com] Abstract We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and agenesis of the corpus callosum.[ncbi.nlm.nih.gov] […] to thrive/dysphagia/gastroesophageal reflux disease (GERD), occasional growth hormone deficiency Recurrent infections/autoimmune disease Developmental delays, especially[unboundmedicine.com]

  • Renpenning Syndrome

    , cupped ears, and short philtrum.[mendelian.co] Patients are thin and show failure to thrive. Delayed motor and language development is noticed in children from an early age.[orpha.net] […] of the corpus callosum, lacunar chorioretinopathy, costovertebral anomalies, seizures in females _____, Xp22 Allan–Herndon syndrome Generalized muscle hypoplasia, childhood[pediatrics.aappublications.org]

  • Microdeletion 3q29 Syndrome

    The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly[orpha.net] Infants with 3q29 microdeletion syndrome often have feeding difficulties and do not grow and gain weight at the expected rate (which is described as failure to thrive).[ghr.nlm.nih.gov] callosum agenesie Microdel.[humangenetik.uniklinikum-jena.de]

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