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Acrocallosal syndrome [4] Acrocallosal syndrome is caused by genetic mutations, also known as pathogenic variants. Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. Acrocallosal syndrome was first described by Schinzel in 1979, and also may be referred to as Schinzel acrocallosal syndrome. Since Schinzel’s original description, ACS has been described in over 37 cases till date. Greig cephalopolysyndactyly syndrome, an autosomal dominant disorder, is known to result from mutations disrupting the normal functioning of a gene known as May 24, 2012 · A rare autosomal recessive disorder characterized by postnatal growth retardation, polydactyly, and hypoplastic or absent corpus callosum. From MedlinePlus Genetics Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. Acrocallosal syndrome (ACLS) is a rare genetic disorder that is characterized by a variety of neurological and physical anomalies. Acrocallosal syndrome - Schinzel Type, also known as ACLS, is a rare and complex genetic disorder that is apparent at birth (congenital), and it affects various aspects of the infant’s development. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Jul 17, 1995 · Historical note and terminology. ¹ ² This article provides a thorough exploration of ACLS, its clinical features, diagnosis, treatment options, prognosis, and ongoing research efforts. An important gene associated with Acrocallosal Syndrome is KIF7 (Kinesin Family Member 7), and among its related pathways/superpathways are Signal Transduction and Loss of Nlp . Acrocallosal syndrome (ACLS) was first recognized by Schinzel in two separate publications of two unrelated Swiss patients with macrocephaly, agenesis of the corpus callosum, hypertelorism, and polydactyly and was termed because of the unique association of corpus callosum and distal acral anomalies most commonly pre and/or postaxial polydactyly (18; 19). Clinical resource with information about Acrocallosal syndrome and its clinical features, KIF7, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials. [3] The syndrome was first described by Albert Schinzel in 1979. Acrocallosal syndrome is a rare disorder caused by gene mutations that affect brain and limb development. Mutations in the KIF7 gene have been found to cause the acrocallosal syndrome. Mutations in another gene, GLI3, can also cause features of this Introduction. Acrocallosal Syndrome (ACS) is a rare genetic disorder characterized by distinct craniofacial anomalies, digital malformations, and neurological impairments. This syndrome has been Acrocallosal Syndrome, also known as joubert syndrome 12, is related to hydrolethalus syndrome 2 and polydactyly, postaxial, type a1, and has symptoms including seizures. The signs and symptoms of this disorder are present at birth, and their severity varies widely among affected Feb 6, 2025 · INTRODUCTION. Acrocallosal syndrome (ACS) was first described by Schinzel in 1979, [] as a conundrum of findings, including post-axial polydactyly, duplication of the hallux, and abnormality of corpus callosum including agenesis or dysgenesis, occasional anencephaly, and/or Dandy–Walker malformation, characteristic craniofacial abnormalities, and moderate-to-severe mental retardation. Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is caused by mutations in the KIF7 gene and may overlap with Joubert syndrome. Since then there have been just 25 cases diagnosed worldwide to date. The acrocallosal syndrome is a rare genetic condition that was first identified in 1970 by Dr. 1 The term acrocallosal refers to the involvement of the acra (fingers and toes) and the corpus callosum. It is a syndrome that affects the development of the brain, and intellectual disability is a defining feature of it. 1)，这是sonic hedgehog信号通路上与纤毛关联的基因，其 Oct 30, 2018 · The name acrocallosal syndrome was proposed by Schinzel and Schimid in 1980. It was first described by Albert Schinzel in 1979. Acrocallosal综合征（ACS)是一种先天性精神发育迟缓综合征，其特征性表现包括智力低下、胼胝体发育不良、轴后多指、轴前多趾、眼距过宽。 病因 目前发现ACS相关致病基因主要为KIF7 (15q26. Aug 8, 2007 · Some investigators have suggested that acrocallosal syndrome may be a variant of Greig cephalopolysyndactyly syndrome, resulting from different changes (mutations) of the same disease gene. gov, PharmGKB Acrocallosal Syndrome. Acrocallosal syndrome Description Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. 1)，少数为GLI3 (7p14. It is primarily associated with abnormalities in the development of the brain, particularly the corpus callosum, which is the structure that connects the left and right hemispheres of the brain. Causes of Acrocallosal Syndrome. The term acrocallosal refers to the involvement of the acra (fingers and toes) and the corpus callosum, the thick band of fibers joining the hemispheres of the brain. The signs and symptoms of this disorder are present at Acrocallosal syndrome is a rare, heterogenous, autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation and other symptoms. Schnizel. It features agenesis of the corpus callosum, polydactyly, and distinctive facial features. cmwxkmg pjhsihl ekwrzz cnjktsc ikolowg ojvss gdxd nmewxf orc ckj |
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