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1,353 Possible Causes for Cerebellar Hypoplasia, Failure to Thrive

  • Lissencephaly

    Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation.[ninds.nih.gov] A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia.[ncbi.nlm.nih.gov] A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 24, 43–46 ( 1993). 15 DeSilva, U. et al.[doi.org]

  • Marshall-Smith Syndrome

    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 report cerebellar hypoplasia in our patient, which has not been previously reported in subjects with this rare syndrome.[ncbi.nlm.nih.gov] hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Choanal atresia Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of[rarediseases.info.nih.gov]

  • Hoyeraal-Hreidarsson Syndrome

    Overview Rare neuro-haematologic syndrome characterised by low birth weight, failure to thrive, atrophy of cerebellum, chronic persistent tongue ulceration, and pancytopenia[xpertdox.com] We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov] […] to thrive / difficulties for feeding in infancy / growth delay - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit [csbg.cnb.csic.es]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood (summary by Haack et al., 2013 ).[mendelian.co] Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity.[mendelian.co] PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.[worldwidescience.org]

  • CAMFAK Syndrome

    Diseases related to Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing: Human phenotypes[malacards.org] […] with malformations Hemochromatosis type 4 Seres-Santamaria Arimany Muniz syndrome Succinic semialdehyde dehydrogenase deficiency Ehlers-Danlos syndrome, kyphoscoliosis type Cerebellar[checkrare.com] Research of Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome has been linked to Microcephaly, Hereditary Diseases, Failure To Thrive, Peripheral Neuropathy[novusbio.com]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Failure to thrive MedGen UID: 115900 • Concept ID: C0231246 • Finding Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.[ncbi.nlm.nih.gov] hypoplasia With mental retardation and cerebellar cysts Normal Normal Normal Cerebellar hypoplasia Cerebellar cysts 1q-42 Merosin positive CMD Typical form Mental retardation[mrineonatalbrain.com] Abdominal pain, diarrhea, failure to thrive. Hypogonadism. [69] [70] Lymphadenopathy.[autoinflammatory-search.org]

  • TORCH Syndrome

    The MRI scan of the brain showed cerebellar hypoplasia in one of the boys, while the cerebellum had normal size in the other.[ncbi.nlm.nih.gov] […] callosum and callosal lipomas, dysplasia of the brainstem, and cerebellar hypoplasia or dysgenesis.[asianjns.org] CMV may be associated with periventricular calcifications, migrational abnormalities, cerebellar hypoplasia, and ventricular enlargement.[med-ed.virginia.edu]

  • Valinemia

    Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening.[malacards.org] hypoplasia Visual impairment Cerebral cortical atrophy Abnormality of the musculature Obsessive-compulsive behavior Alzheimer disease Rapidly progressive Abnormality of eye[mendelian.co] Related phenotypes are muscle weakness and failure to thrive Wikipedia : 76 Hypervalinemia, also called valinemia or valine transaminase deficiency, is a rare autosomal recessive[malacards.org]

  • Congenital Disorder of Glycosylation Type 1I

    Feeding difficulties leading to failure to thrive is also common.[rarediseases.org] Compared with type I patients they have a more severe psychomotor retardation but no peripheral neuropathy nor cerebellar hypoplasia.[adc.bmj.com] […] hypotrophy/hypoplasia.[books.google.it]

  • Smith Lemli Opitz Syndrome

    Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation.[ncbi.nlm.nih.gov] hypoplasia and austism behaviors.[ncbi.nlm.nih.gov] We found correlations between multiple congenital malformations, failure to thrive and low plasmatic cholesterol measurement.[ncbi.nlm.nih.gov]

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