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379 Possible Causes for Cerebellar Hypoplasia, Chronic Dermatitis

  • Dyskeratosis Congenita

    hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.[ncbi.nlm.nih.gov] hypoplasia More severe disorders and complications include The development in 80% of patients, most often in the second decade of life, of bone marrow deficiency of variable[afdc.asso.fr] The original descriptions of HH all included cerebellar hypoplasia [ 13 - 15 ], and we suggest that documentation of cerebellar hypoplasia ( Figure 2 ) is required to make[ncbi.nlm.nih.gov]

  • Ichthyosis

    Chronic dermatitis is typical among rare primary ...[centerwatch.com] Ataxia is sometimes present and MRIs may reveal vermal and cerebellar hypoplasia. Facial dysmorphism is common.[disorders.eyes.arizona.edu] Found ( 15 ) clinical trials Asthma and Atopic Dermatitis Validation of PROMIS Pediatric Instruments This study involves a series of research and development projects targeted[centerwatch.com]

  • Hoyeraal-Hreidarsson Syndrome

    Persistence of primary teeth Recurrent fungal infections Increased IgE level Red hair Hemihypertrophy Dystrophic fingernails Recurrent sinopulmonary infections Chronic mucocutaneous[mendelian.co] We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov] Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly, cerebellar-hypoplasia and[ncbi.nlm.nih.gov]

  • Congenital Ichthyosis

    Ataxia is sometimes present and MRIs may reveal vermal and cerebellar hypoplasia. Facial dysmorphism is common.[disorders.eyes.arizona.edu] Severe brain malformations such as lissencephaly, cerebellar hypoplasia, and dysgenesis/agenesis of the corpus callosum are frequently present.[disorders.eyes.arizona.edu]

  • Tyrosinemia

    Unique findings include optic atrophy, cerebellar degeneration, and exocrine pancreatic hypoplasia.[ncbi.nlm.nih.gov]

  • Congenital Non-Progressive Ataxia

    […] ceroid lipofuscinosis Adult-onset autosomal dominant leukodystrophy Adult-onset autosomal recessive cerebellar ataxia Adult-onset cervical dystonia, DYT23 type Adult-onset chronic[se-atlas.de] Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia.[ncbi.nlm.nih.gov] In many cases, neuroimaging studies (CT scan, MRI) show cerebellar hypoplasia or atrophy, especially of the vermis, with occasional white matter changes, and diffuse atrophy[orpha.net]

  • Pfeiffer-Palm-Teller Syndrome

    Dermatitis herpetiformis presenting as chronic urticaria. Pediatr Dermatol. 2004;21(5):564–567. 24. Saito M, Böer A, Ishiko A, Nishikawa T.[dovepress.com] Popliteal pterygium syndrome lethal type Popliteal pterygium syndrome Porencephaly cerebellar hypoplasia malformations Porencephaly Porokeratosis of Mibelli Porokeratosis[bioreference.net] Pontoneocerebellar Hypoplasia[?] Popliteal pterygium syndrome lethal type[?] Popliteal pterygium syndrome[?] Porencephaly cerebellar hypoplasia malformations[?][encyclopedia.kids.net.au]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    […] ceroid lipofuscinosis Adult-onset autosomal dominant leukodystrophy Adult-onset autosomal recessive cerebellar ataxia Adult-onset cervical dystonia, DYT23 type Adult-onset chronic[se-atlas.de] Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ).[ajnr.org] […] ataxia, nonprogressive, with mental retardation Cerebellar ataxia, SNX14 related Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion Cerebral[qlinics.com]

  • X-Linked Spinocerebellar Ataxia Type 5

    , Autosomal Recessive, Cytochrome b-Positive, Type II 2 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type III 2 Granulomatous Disease, Chronic[preventiongenetics.com] This is the first example of the genetic mapping of a pure congenital cerebellar hypoplasia syndrome.[ncbi.nlm.nih.gov] Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ).[ajnr.org]

  • Myelocerebellar Disorder

    […] ceroid lipofuscinosis Adult-onset autosomal dominant leukodystrophy Adult-onset autosomal recessive cerebellar ataxia Adult-onset cervical dystonia, DYT23 type Adult-onset chronic[se-atlas.de] […] severe variant of DC, with the additional manifestations of cerebellar hypoplasia, microcephaly, and psychomotor retardation.4, 5, 6 Most patients with DC have very short[hiv-proteases.com] Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and[mendelian.co]

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