Disease or Syndrome
Acrocallosal syndrome
Subclass of:
Agenesis of corpus callosum
Definitions related to acrocallosal syndrome:
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A rare genetic syndrome characterized by agenesis of the corpus callosum, polydactyly, mental and motor retardation.NCI ThesaurusU.S. National Cancer Institute, 2021
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Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.GeneReviewsUniversity of Washington, 2021
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