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2,867 Possible Causes for AND, Hydranencephaly, Microcephaly

  • Congenital Muscular Dystrophy

    In addition, our patient displayed primary microcephaly, not previously reported associated with fukutin mutations.[ncbi.nlm.nih.gov] […] report different compound heterozygous POMT1 mutations in four unrelated families that result in a less severe phenotype than WWS, characterized by CMD with calf hypertrophy, microcephaly[ncbi.nlm.nih.gov] We describe an infant with the phenotype of a congenital muscular dystrophy, with borderline microcephaly, hypotonia, camptodactyly, severe motor delay, and elevated creatine[ncbi.nlm.nih.gov]

    Missing: AND
  • Familial Porencephaly

    Affected individuals may have small heads (microcephaly) or increased pressure due to fluid accumulation inside the brain, known as hydrocephalus.[checkorphan.org] Evolution of hydranencephaly following intracerebral hemorrhage. Obstet Gynecol 1992;79:870-871.[fetalultrasound.com] Other signs and symptoms may include microcephaly (abnormally small head), intellectual disability, partial or complete paralysis, muscle spasticity , and muscular hypotonia[xpertdox.com]

    Missing: AND
  • West Syndrome

    A mutation in ARFGEF2 has been previously described only once, causing microcephaly and periventricular heterotopia.[ncbi.nlm.nih.gov] Prenatal disorders associated with infantile spasms include the following: Hydrocephalus Hydranencephaly Migrational disorders such as schizencephaly polymicrogyria Sturge-Weber[emedicine.medscape.com] The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs.[ncbi.nlm.nih.gov]

    Missing: AND
  • TORCH Syndrome

    Abstract Intracranial calcification and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive[ncbi.nlm.nih.gov] Ocular signs associated with hydranencephaly . Am J Ophthalmol 1961; 51 : 267–275. 4. Manschot WA . Eye findings in hydranencephaly .[nature.com] Findings may include fetal growth retardation, cardiac defects, microcephaly, and intracranial calcifications.[symptoma.com]

    Missing: AND
  • Autosomal Recessive Frontotemporal Pachygyria

    They are otherwise morphologically normal and do not have microcephaly. Two experienced a single seizure in infancy.[ncbi.nlm.nih.gov] Hydranencephaly.[revistamedicina.net] head size ( microcephaly ).[rarediseases.info.nih.gov]

    Missing: AND
  • Alobar Holoprosencephaly

    A 31-year-old primigravida was referred for genetic counselling at 26 weeks' gestation due to the sonographic findings of intrauterine growth retardation and microcephaly.[ncbi.nlm.nih.gov] Hydranencephaly is thought to arise from bilateral internal carotid artery occlusions with intact posterior circulation.[roentgenrayreader.blogspot.com] We report the prenatal diagnosis of partial trisomy 3p(3p23-- pter) and monosomy 7q(7q36-- qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia.[ncbi.nlm.nih.gov]

    Missing: AND
  • LIG4 Syndrome

    Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol. 2006 Jan;36(1):224-35.[humpath.com] ARSE Chondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1) ARX Corpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly[genda.com.ar] Published 2009 in Pediatric blood & cancer DOI: 10.1002/pbc.22031 DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly[semanticscholar.org]

    Missing: AND
  • Macrocephaly

    Microcephaly was significantly associated with the presence of medical disorders.[link.springer.com] […] the intracranial volumetric analysis of cerebrospinal fluid (CSF) and brain parenchyma in the supratentorial and infratentorial space in a 30-year-old female patient with hydranencephaly[ncbi.nlm.nih.gov] . content pending content pending In an infant it can result from a wide range of causes: congenital hydrocephalus : this, in turn, can result from a multitude of causes hydranencephaly[radiopaedia.org]

    Missing: AND
  • Sjogren-Larsson Syndrome

    Other features that could be seen include seizures, speech difficulty, short stature, spinal abnormalities (kyphoscoliosis), smaller head and brain (microcephaly), numbness[rarediseases.org] 遺伝性葉酸吸収不全 Hereditary Folate Malabsorption 遺伝性腎炎 hereditary nephritis 遺伝性感覚性自律神経性ニューロパチー hereditary sensory and autonomic neuropathy ヒルシュスプルング病 Hirschsprung disease 水無脳症 hydranencephaly[lsd-project.jp] SLOS is characterized by prenatal and postnatal growth retardation, microcephaly, variable intellectual disability, and malformations.[rarediseasesnetwork.org]

    Missing: AND
  • Renpenning Syndrome 1

    In addition, we identified another family exhibiting microcephaly and MR ( fig. 1 B ).[ncbi.nlm.nih.gov] ARSE Chondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1) ARX Corpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly[genda.com.ar] Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 A RSE Xp22.33 Chondrodysplasia punctata, X-linked recessive 302950 A RX Xp21.3 Epileptic encephalopathy, early infantile, 1 308350 Hydranencephaly[institutobernabeu.com]

    Missing: AND

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