Acrocallosal Syndrome

Agenesis of Corpus Callosum

Abnormalities, Multiple

Syndrome

Intellectual Disability

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Corpus callosum

Dandy-Walker malformation

Stanislas Lyonnet

Dysmelia

ACLS

Webbed toes

List of diseases (A)

Agenesis of the corpus callosum

Polydactyly

Hydrolethalus syndrome

Acrocallosal syndrome

Greig cephalopolysyndactyly syndrome

List of syndromes

Macrocephaly

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GLI3 gene: MedlinePlus Genetics

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Greig cephalopolysyndactyly syndrome: MedlinePlus Genetics

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Greig cephalopolysyndactyly syndrome: MedlinePlus Genetics

Abnormalities2

• Other brain abnormalities, including the growth of large cysts in brain tissue, have also been reported in people with acrocallosal syndrome. (medlineplus.gov)
• This article reports a 5-month-old boy with combination of abnormalities consistent with acrocallosal syndrome. (who.int)

Schinzel3

• Courtens W, Vamos E, Christophe C, Schinzel A. Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome. (medlineplus.gov)
• IMSEAR at SEARO: Schinzel acrocallosal syndrome. (who.int)
• Acrocallosal syndrome (ACLS), also known by its synonyms: Schinzel Acrocallosal syndrome and Hallux duplication, Postaxial polydactyly and absence of corpus callosum, is a rare genetic disorder that is apparent at birth. (who.int)

Genes2

• The roles of these genes in brain and limb patterning may help explain why mutations lead to agenesis of the corpus callosum, polydactyly, and the other features of acrocallosal syndrome. (medlineplus.gov)
• It is extremely rare that Hirschsprung's disease (HSCR) merges with a disorder showing abnormality of the L1CAM genes such as acrocallosal syndrome (ACS) or X-linked hydrocephalus (XLH). (jpedsurg.org)

Aicardi Syndrome3

• Aicardi Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (jefferson.edu)
• This graph shows the total number of publications written about "Aicardi Syndrome" by people in this website by year, and whether "Aicardi Syndrome" was a major or minor topic of these publications. (jefferson.edu)
• Below are the most recent publications written about "Aicardi Syndrome" by people in Profiles. (jefferson.edu)

Agenesis5

• 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. (medlineplus.gov)
• Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. (bvsalud.org)
• A polymalformation syndrome with main features of agenesis of corpus callosum, distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. (cdc.gov)
• Septo-optic dysplasia (SOD, de Morsier syndrome) is used to describe the association between ONH and the absence of septum pellucidum, deficiency of pituitary hormones and agenesis of corpus callosum. (aao.org)
• Dr. Hoyt attributed the discovery of the association of optic nerve hypoplasia with septum pellucidum agenesis to de Morsier, and resurrected the term septo-optic dysplasia syndrome. (aao.org)

Congenital2

• Congenital central hypoventilation syndrome (CCHS) results in hypoventilation, most pronounced during sleep, with relative insensitivity to hypercarbia and reduced insensitivity to hypoxia. (jpedsurg.org)
• Congenital central hypoventilation syndrome with HSCR is a rare condition with variable severity. (jpedsurg.org)

Disorder2

• However, the signs and symptoms overlap significantly with those of a similar disorder called Greig cephalopolysyndactyly syndrome (which is also caused by GLI3 gene mutations), so acrocallosal syndrome resulting from GLI3 gene mutations is sometimes considered a severe form of that condition. (medlineplus.gov)
• Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. (rareginews.com)

Autosomal3

• The Waardenburg-Shah syndrome is an autosomal recessive disease with varied penetration where Hirschsprung's disease and the Waardenburg syndrome are seen together. (jpedsurg.org)
• Donnai Barrow syndrome is caused by changes ( mutations ) in the LRP2 gene and is inherited in an autosomal recessive manner. (rareginews.com)
• Autosomal recessive transmission of neuroectodermal syndrome. (maksillofasiyalsendromlar.org)

Gene5

• Mutations in the KIF7 gene have been found to cause acrocallosal syndrome. (medlineplus.gov)
• Association between fibromyalgia syndrome and polymorphism of the IL-4 gene in a Turkish population. (healthdrugpdf.com)
• Association between sequence variations of the Mediterranean fever gene and fibromyalgia syndrome in a cohort of Turkish patients. (healthdrugpdf.com)
• BACKGROUND: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. (bvsalud.org)
• Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. (maksillofasiyalsendromlar.org)

Occur1

• Sensory processing difficulties occur in both syndromes. (bvsalud.org)

Severe1

• RESULTS: Marshall-Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired speech and less reciprocal interaction compared with individuals with Malan syndrome. (bvsalud.org)

Clinical3

• Prognostic utility of clinical epilepsy severity score versus pretreatment hypsarrhythmia scoring in children with west syndrome. (aiims.edu)
• We present in this study 2 siblings and one first-degree relative for a total of 3 male patients with Waardenburg syndrome and total colonic aganglionosis with or without small bowel involvement, together with their clinical characteristics and treatment methods. (jpedsurg.org)
• Simsek-Kiper PO, Roach E, Utine GE, Boduroglu K. Barraquer-Simons syndrome: a rare clinical entity. (maksillofasiyalsendromlar.org)

Defects1

• De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. (medlineplus.gov)

Features1

• A 3-month-old male child presented with typical features of acrocallosal syndrome. (who.int)

Term2

• Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall-Smith syndrome. (bvsalud.org)
• Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. (maksillofasiyalsendromlar.org)

People1

• Extra fingers and toes are common in people with acrocallosal syndrome. (medlineplus.gov)

Common1

• Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. (bvsalud.org)

Male1

• METHODS: Behavioural phenotypes are compared of eight individuals with Marshall-Smith syndrome (three male individuals) and seven with Malan syndrome (four male individuals). (bvsalud.org)

Show1

• CONCLUSIONS: Results show significant between and within syndrome variability. (bvsalud.org)

Total1

• Although the length of the involved intestinal segment varies in this syndrome, most patients had total colonic aganglionosis with or without small bowel involvement. (jpedsurg.org)

Features of acrocallosal syndrome3

• The roles of these genes in brain and limb patterning may help explain why mutations lead to agenesis of the corpus callosum, polydactyly, and the other features of acrocallosal syndrome. (medlineplus.gov)
• At least two mutations in the GLI3 gene have been reported in people with features of acrocallosal syndrome, a rare condition characterized by certain brain abnormalities, extra fingers and toes (polydactyly), and distinctive facial features, including widely spaced eyes (hypertelorism) and a prominent forehead. (nih.gov)
• Mutations in the GLI3 gene have been found in people who have polydactyly without the other features of acrocallosal syndrome, Greig cephalopolysyndactyly syndrome, or Pallister-Hall syndrome (described above). (nih.gov)

Cause acrocallosal syndrome2

• Mutations in the KIF7 gene have been found to cause acrocallosal syndrome. (medlineplus.gov)
• The GLI3 gene mutations that cause acrocallosal syndrome change single protein building blocks (amino acids) in a particular region of the GLI3 protein, which disrupts the protein's function. (nih.gov)

Joubert1

• Remarkably, zebrafish lacking all Kif7 function are viable, in contrast to the peri-natal lethality of mouse kif7 mutants but similar to some Acrocallosal or Joubert syndrome patients who are homozygous for loss of function KIF7 alleles. (whiterose.ac.uk)

Polydactyly9

• 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. (medlineplus.gov)
• Acrocallosal syndrome (ACS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation. (nih.gov)
• Acrocallosal syndrome (also known as ACLS) is a rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. (gamuts.net)
• At least 120 mutations in the GLI3 gene have been identified in people with Greig cephalopolysyndactyly syndrome, which is a rare condition characterized by polydactyly, hypertelorism, a broad forehead, and an unusually large head (macrocephaly). (nih.gov)
• More than 40 mutations in the GLI3 gene have been found to cause Pallister-Hall syndrome, a rare condition whose major features include polydactyly, an abnormal growth in the brain called a hypothalamic hamartoma, and a malformation of the airway called a bifid epiglottis. (nih.gov)
• Polydactyly is not often associated with congenital anomalies, except in recognizable syndromes. (medscape.com)
• In one study by Castilla et al, trisomy 13, Meckel syndrome, and Down syndrome accounted for most cases of polydactyly. (medscape.com)
• GLI3 -related Pallister-Hall syndrome ( GLI3 -PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. (nih.gov)
• Their top areas of expertise are Lissencephaly 2, Acrocallosal Syndrome, Curry Jones Syndrome, and Polydactyly. (medifind.com)

GLI39

• However, the signs and symptoms overlap significantly with those of a similar disorder called Greig cephalopolysyndactyly syndrome (which is also caused by GLI3 gene mutations), so acrocallosal syndrome resulting from GLI3 gene mutations is sometimes considered a severe form of that condition. (medlineplus.gov)
• De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. (medlineplus.gov)
• These signs and symptoms overlap significantly with those of Greig cephalopolysyndactyly syndrome (described below), so acrocallosal syndrome resulting from GLI3 gene mutations is sometimes considered a severe form of that condition. (nih.gov)
• The genetic changes that cause Greig cephalopolysyndactyly syndrome prevent one copy of the gene in each cell from producing any functional GLI3 protein. (nih.gov)
• It remains unclear how a reduced amount of the GLI3 protein disrupts development of the limbs, head, and face and causes the specific features of Greig cephalopolysyndactyly syndrome. (nih.gov)
• Most of the mutations that cause Pallister-Hall syndrome occur near the middle of the gene, creating a premature stop signal in the instructions for making the GLI3 protein. (nih.gov)
• Although this change clearly disrupts embryonic development, it is not known how the altered function of the GLI3 protein leads to the varied signs and symptoms of Pallister-Hall syndrome. (nih.gov)
• Consensus clinical diagnostic criteria for GLI3 -related Pallister-Hall syndrome ( GLI3 -PHS) have been published [ Johnston et al 2010 ]. (nih.gov)
• Altered GLI3 and FGF8 signaling underlies Acrocallosal syndrome phenotypes in Kif7 depleted mice. (inmg.fr)

Greig2

• Thus, intracerebral cysts are a common finding in ACS and may serve in differentiating ACS from Greig cephalopolysyndactyly syndrome. (nih.gov)
• The genetic changes associated with Greig cephalopolysyndactyly syndrome include insertions or deletions of a small amount of DNA and changes in single DNA building blocks (base pairs) in critical regions of the gene. (nih.gov)

Corpus4

• A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. (nih.gov)
• Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM . (nih.gov)
• A polymalformation syndrome with main features of agenesis of corpus callosum, distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. (cdc.gov)
• for Agenesis of Corpus Callosum use Aicardi Syndrome 2011 BX - Absence of Corpus Callosum BX - Corpus Callosum Agenesis MH - Agricultural Inoculants UI - D059827 MN - B1.300.53 MN - B3.54 MS - Beneficial microorganisms (bacteria or fungi) encapsulated in carrier material and applied to the environment for remediation and enhancement of agricultural productivity. (nih.gov)

Genetic1

• Genetic counseling in acrocallosal syndrome. (nih.gov)

Spectrum2

• Major syndromes associated with ACC that are part of the extended ciliopathy spectrum. (medscape.com)
• Our diabetes and obesity panel is recommended for patients with abnormalities in glucose metabolism, such as hyperinsulinemic hypoglicemia, diabetes neonatal, MODY, diabetes in adults, and familial hypercholesterolemia as well as for patients displaying insulin resistance, from mild to the severe spectrum (Donohue syndrome), and for patients with familial hyperinsulinism. (azureedge.net)

Macrocephaly2

• We propose that the smallest duplications of 12(p13.2pter) and 12(p13.1p13.33) produce the "trisomy 12p syndrome" which is characterized by heavy birth weight, macrocephaly, muscular hypotonia, short neck, flat face, high forehead, prominent cheeks, large philtrum, short nose with anteverted nostrils, and broad everted lower lip. (nih.gov)
• People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders . (wikipedia.org)

Dystrophy syndrome1

• Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria? (ipfs.io)

Type1

• Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type 2I (LGMD2I) also known as LGMDR9, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS). (medifind.com)

Mutations1

• Donnai Barrow syndrome is caused by changes ( mutations ) in the LRP2 gene and is inherited in an autosomal recessive manner. (rareophthalmologynews.com)

Duplication1

• [ 13 ] Down syndrome was associated strongly with duplication of the first digit. (medscape.com)