Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
A characteristic symptom complex.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

Commissural malformations: beyond the corpus callosum. (1/16)

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Auditory interhemispheric transfer in relation to patterns of partial agenesis and hypoplasia of the corpus callosum in spina bifida meningomyelocele. (2/16)

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Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. (3/16)

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Variability of homotopic and heterotopic callosal connectivity in partial agenesis of the corpus callosum: a 3T diffusion tensor imaging and Q-ball tractography study. (4/16)

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Partial agenesis of the corpus callosum in spina bifida meningomyelocele and potential compensatory mechanisms. (5/16)

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Why schizophrenia epidemiology needs neurobiology--and vice versa. (6/16)

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Transient neuronal populations are required to guide callosal axons: a role for semaphorin 3C. (7/16)

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Diffusion-weighted imaging in fetuses with unilateral cortical malformations and callosal agenesis. (8/16)

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Acrocallosal syndrome is a rare genetic disorder characterized by the underdevelopment or absence of the corpus callosum (the part of the brain that connects the two hemispheres) and abnormalities of the fingers, toes, and face. The symptoms of this condition can vary widely in severity, but may include intellectual disability, developmental delays, seizures, weak muscle tone, abnormalities of the skull and facial bones, widely spaced eyes, a flat nasal bridge, a short nose with upturned nostrils, an open mouth with a highly arched roof, and a small jaw. In addition, individuals with Acrocallosal syndrome often have extra fingers or toes (polydactyly) and other skeletal abnormalities.

Acrocallosal syndrome is caused by mutations in the KIF7 gene, which provides instructions for making a protein that helps regulate the development and organization of cells in the body. Mutations in this gene are thought to disrupt the normal functioning of this protein, leading to the characteristic signs and symptoms of Acrocallosal syndrome. The disorder is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to be affected.

Agenesis of the corpus callosum is a birth defect in which the corpus callosum, the part of the brain that connects the two hemispheres and allows them to communicate, fails to develop normally during fetal development. In cases of agenesis of the corpus callosum, the corpus callosum is partially or completely absent.

This condition can vary in severity and may be associated with other brain abnormalities. Some individuals with agenesis of the corpus callosum may have normal intelligence and few symptoms, while others may have intellectual disability, developmental delays, seizures, vision problems, and difficulties with movement and coordination. The exact cause of agenesis of the corpus callosum is not always known, but it can be caused by genetic factors or exposure to certain medications or environmental toxins during pregnancy.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Aicardi syndrome, Neu-Laxova syndrome, Young-Madders syndrome, oto-palato-digital syndrome type 2, Toriello-Carey syndrome, and ... orofaciodigital syndrome types I and II, Meckel-Gruber syndrome, Smith-Lemli-Opitz syndrome, Rubinstein-Taybi syndrome, ... Rare genetic syndromes, Ciliopathy, Syndromes with dysmelia, Syndromes with intellectual disability, Corpus callosum, Syndromes ... Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum ...
CNGB3 Acrocallosal syndrome; 200990; GLI3 Acrocapitofemoral dysplasia; 607778; IHH Acrodermatitis enteropathica; 201100; ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
"KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes". Nature Genetics. 43 (6): 601-6. doi:10.1038/ng.826. PMC ... Hydrolethalus syndrome (HLS) was first mistakenly identified in Finland, during a study on Meckel syndrome. Like HLS, Meckel ... HLS can be distinguished from Meckel syndrome by analysing kidney function, which is dysfunctional in Meckel syndrome as a ... Hydrolethalus syndrome (HLS) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and ...
Fraser syndrome, Aicardi syndrome, Cornelia de Lange syndrome, Klippel-Feil syndrome and acrocallosal syndrome, among others. ... Rubinstein-Taybi syndrome, Marden-Walker syndrome, Sheldon-Hall syndrome, Shah-Waardenburg syndrome, Fryns syndrome, Walker- ... oral-facial-digital syndrome, Coffin-Siris syndrome, Meckel-Gruber syndrome type 7 and Kallmann syndrome, among many others. ... Rare syndromes, Syndromes affecting the cerebellum, Syndromes affecting the nervous system). ...
These diseases include: acrocallosal syndrome, carpenter syndrome, and Gorlin syndrome. The main treatment is surgery to fix ... Syndromes with dysmelia, Syndromes affecting head size, Rare syndromes). ... Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this ... Greig cephalopolysyndactyly syndrome is a chromosomal condition related to chromosome 7. Mutations in the GLI3 gene cause Greig ...
Costal2 (KIF7) mutations cause fetal Hydrolethalus and Acrocallosal syndromes and expand the ciliopathy spectrum. Nat Genet ... Mutant WD-repeat protein in triple-A syndrome. Nat Genet 2000, 26 : 332-5. Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, ... His research team at Imagine focuses on forms of neurocristopathy and fetal syndromes that result from abnormal development of ... PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet 2005, 76: ...
Some syndromes often associated with ACC include Aicardi syndrome, Andermann syndrome, Shapiro syndrome, and acrocallosal ... de Morsier syndrome) Split-brain Susac's syndrome characterised by lesions as small holes in the corpus callosum The first ... ACC is usually diagnosed within the first two years of life, and may manifest as a severe syndrome in infancy or childhood, as ... See also: Alien hand syndrome Dyslexia without agraphia (seen with damage to splenium of corpus callosum) Marchiafava-Bignami ...
16.1 microdeletion syndrome Achard syndrome Ackerman syndrome Acrocallosal syndrome Acropectoral syndrome Adams-Oliver syndrome ... syndrome Haas syndrome Hanhart syndrome Holt-Oram syndrome Humeroradial synostosis Johnson-Munson syndrome Joubert syndrome ... Microgastria Myhre syndrome Nager acrofacial dysostosis Neu-Laxova syndrome Patau syndrome Pfeiffer syndrome Poland syndrome ... Phocomelia syndrome) Rubinstein-Taybi syndrome Silver-Russell syndrome Split-hand split-foot malformation (SHFM) TAR syndrome ( ...
... cataract syndrome Acrocallosal syndrome Acropectoral syndrome Acro-dermato-ungual-lacrimal-tooth syndrome Activation syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
... may refer to: Acrocallosal syndrome, a genetic disease Advanced cardiac life support, a set of clinical interventions for ...
Acrocallosal syndrome Apert syndrome Bannayan-Riley-Ruvalcaba syndrome Cardiofaciocutaneous syndrome Chromosome 14 - maternal ... Behmel syndrome Sotos syndrome Sturge-Weber syndrome Weaver syndrome Wiedemann-Rautenstrauch syndrome 3C syndrome Glutaric ... Joubert syndrome Keipert syndrome Legius syndrome LEOPARD syndrome Lethal congenital contracture syndrome MASA syndrome ... syndrome; neurocardiofacial-cutaneous syndromes such as Noonan syndrome, Costello syndrome, Gorlin syndrome, (also known as ...
Aarskog-Scott syndrome Acrocallosal syndrome Apert syndrome Bardet-Biedl syndrome Carpenter syndrome Cornelia de Lange syndrome ... Edwards syndrome Jackson-Weiss syndrome Fetal hydantoin syndrome Miller syndrome Pfeiffer syndrome Smith-Lemli-Opitz syndrome ... If other symptoms are present, a specific syndrome may be indicated.[citation needed] Diagnosis of a specific syndrome is based ... Timothy syndrome Ectodermal dysplasia Klippel-Feil syndrome This condition is normally discovered at birth. ...
... syphilis Acral dysostosis dyserythropoiesis Acral renal mandibular syndrome Acro coxo mesomelic dysplasia Acrocallosal syndrome ... Pande syndrome Aarskog syndrome Aase-Smith syndrome Aase syndrome Abasia ABCD syndrome Abdallat-Davis-Farrage syndrome ... syndrome Akesson syndrome Aksu-Stckhausen syndrome Al Awadi Teebi Farag syndrome Al Frayh Facharzt Haque syndrome Al Gazali Al ... Alien hand syndrome Alkaptonuria Allain-Babin-Demarquez syndrome Allan-Herndon-Dudley syndrome Allanson-Pantzar-McLeod syndrome ...
Acrocallosal syndrome Aicardi syndrome Andermann syndrome Donnai-Barrow syndrome Dwarfism FG syndrome L1CAM syndrome ... syndrome Pitt-Hopkins syndrome Sensenbrenner syndrome Strømme syndrome Triploid syndrome Trisomy 9 Xia-Gibbs syndrome Agenesis ... syndrome Fetal warfarin syndrome Genitopatellar syndrome Gomez-Lopez-Hernandez syndrome Joubert syndrome Lujan-Fryns syndrome ... syndrome Maternal nutritional deficiencies or infections Metabolic disorders Okamoto syndrome Opitz G/BBB syndrome Pascual- ...
... acrocallosal syndrome, basal cell nevus syndrome, Biemond syndrome, ectrodactyly-ectodermal dysplasias-cleft lip/palate ... Ellis-van Creveld syndrome, McKusick-Kaufman syndrome, Down syndrome, Bardet-Biedl syndrome, Smith-Lemli-Opitz syndrome. Type ... Bardet-Biedl syndrome, Meckel syndrome, Pallister-Hall syndrome, Legius syndrome, Holt-Oram syndrome. Central polydactyly can ... syndrome, mirror hand deformity, Mohr syndrome, oral-facial-digital syndrome, Rubinstein-Taybi syndrome, short rib polydactyly ...
Aicardi syndrome, Neu-Laxova syndrome, Young-Madders syndrome, oto-palato-digital syndrome type 2, Toriello-Carey syndrome, and ... orofaciodigital syndrome types I and II, Meckel-Gruber syndrome, Smith-Lemli-Opitz syndrome, Rubinstein-Taybi syndrome, ... Rare genetic syndromes, Ciliopathy, Syndromes with dysmelia, Syndromes with intellectual disability, Corpus callosum, Syndromes ... Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum ...
Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the ... medlineplus.gov/genetics/condition/acrocallosal-syndrome/ Acrocallosal syndrome. ... Acrocallosal syndrome (or severe Greig cephalopolysyndactyly syndrome) resulting from GLI3 gene mutations is considered ... When acrocallosal syndrome is caused by KIF7 gene mutations, it is inherited in an autosomal recessive pattern. , which means ...
Acrocallosal syndrome, Schinzel type. KIF21A. Fibrosis of extraocular muscles, congenital, 1. KLHL7. Retinitis pigmentosa 42. ... Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary ... Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary ... Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary ...
Acrocallosal syndrome, Schinzel type From NCATS Genetic and Rare Diseases Information Center ...
... including Chudley-McCullough syndrome, acrocallosal syndrome, and autosomal recessive primary ciliary dyskinesia. These ... Moreover, ACs are seen with increased frequency in multiple Mendelian syndromes, ... causing a clinical syndrome of recurrent respiratory infections and situs inversus, symptoms that do not typically accompany ... SMARCC1 variants have not been systematically examined in a large patient cohort or conclusively linked with a human syndrome. ...
... including acrocallosal syndrome (with developmental delay and corpus callosum defects), Carpenter and Pfeiffer syndromes (with ... Meckel syndrome, Ellis-van Creveld syndrome, McKusick-Kaufman syndrome, Down syndrome Down Syndrome (Trisomy 21) Down syndrome ... The remaining cases are mostly due to underlying genetic syndromes such as Adams-Oliver syndrome or chromosomal abnormalities. ... Among the syndromes to be considered are Greig cephalopolysyndactyly syndrome, ...
D2.33.755.624.698.25 Acrocallosal Syndrome C10.500.70 C10.500.34.500 C16.131.666.70 C16.131.666.34.500 Acute Toxicity Tests ... D1.632.88.500 MELAS Syndrome C10.228.140.300.275.500 C14.907.253.329.500 Mepartricin D4.345.349.497 D9.408.477.497 Merbromin ... A8.800.800.60.275 Failed Back Surgery Syndrome C10.597.617.152.199 C10.597.617.232.199 Failure to Thrive C23.550.393.225 ... D9.408.477.330 Jervell-Lange Nielsen Syndrome C23.550.73.547.440 Jogging G11.427.590.530.698.610.320 G11.427.590.530.698.277. ...
D2.33.755.624.698.25 Acrocallosal Syndrome C10.500.70 C10.500.34.500 C16.131.666.70 C16.131.666.34.500 Acute Toxicity Tests ... D1.632.88.500 MELAS Syndrome C10.228.140.300.275.500 C14.907.253.329.500 Mepartricin D4.345.349.497 D9.408.477.497 Merbromin ... A8.800.800.60.275 Failed Back Surgery Syndrome C10.597.617.152.199 C10.597.617.232.199 Failure to Thrive C23.550.393.225 ... D9.408.477.330 Jervell-Lange Nielsen Syndrome C23.550.73.547.440 Jogging G11.427.590.530.698.610.320 G11.427.590.530.698.277. ...
Thousands of medical professionals trust MedLink for current, authoritative information spanning the full spectrum of neurology.
Acrocallosal Syndrome. Síndrome Acrocallosal. Síndrome Pós-Laminectomia. Failed Back Surgery Syndrome. Síndrome de Fracaso de ... Acrocallosal Syndrome. Síndrome Acrocallosal. Síndrome da Plaqueta Cinza. Gray Platelet Syndrome. Síndrome de Plaquetas Grises ... Pallister-Hall Syndrome. Síndrome de Pallister-Hall. C11 - Oftalmopatias. Miosite Orbital. Orbital Myositis. Miositis Orbitaria ... Refeeding Syndrome. Síndrome de Realimentación. C20 - Doenças do Sistema Imune. Síndrome de Ativação Macrofágica. Macrophage ...
Acrocallosal syndrome (ACS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and ... Spectrum of the acrocallosal syndrome Rainer Koenig 1 , Alexia Bach, Ulrike Woelki, Karl-Heinz Grzeschik, Sigrun Fuchs ... Spectrum of the acrocallosal syndrome Rainer Koenig et al. Am J Med Genet. 2002. . ... Acrocallosal syndrome: report of five Turkish patients. Gül D, Ulucan H, Ünay B, Akın R, Gökçay E. Gül D, et al. Clin ...
Acrocallosal syndrome. At least two mutations in the GLI3 gene have been reported in people with features of acrocallosal ... A de novo GLI3 mutation in a patient with acrocallosal syndrome. Am J Med Genet A. 2013 Jun;161A(6):1394-400. doi: 10.1002/ajmg ... Mutations in the GLI3 gene have been found in people who have polydactyly without the other features of acrocallosal syndrome, ... Pallister-Hall syndrome. More than 40 mutations in the GLI3 gene have been found to cause Pallister-Hall syndrome, a rare ...
... of the developmental mechanisms involved in corpus callosum formation have provided insight into possible causes of syndromes ... Joubert syndrome. Meckel syndrome. Hydrolethalus syndrome. Acrocallosal syndrome. Bardet-Biedl syndrome (JSRD). ... Acrocallosal syndrome. GLI family zinc finger 3 (GLI3). 165240. 4319. 7p13. Defining feature. ACC and/or Dandy-Walker ... FG syndrome. Filamin A, aplha (FLNA). 300017. 3754. Xq28. 50% (14/28). See Opitz-Kaveggia syndrome. n.d. Graham et al., 1999; ...
In one study by Castilla et al, trisomy 13, Meckel syndrome, and Down syndrome accounted for most cases of polydactyly. [13] ... Many other syndromes have been identified to include polydactyly as an associated clinical manifestations, including the ... Polydactyly is not often associated with congenital anomalies, except in recognizable syndromes. ...
THOC6 intellectual disability syndrome is associated with moderate-to-severe developmental delay or intellectual disability; ... Acrocallosal syndrome (OMIM 200990). AR. Severe ID; corpus callosum dysgenesis; genital anomalies. Distal anomalies of limbs; ... Overlapping w/THOC6 ID syndrome. Distinguishing from THOC6 ID syndrome. ATR CENPJ CEP152 CEP63 DNA2 NIN NSMCE2 RBBP8 TRAIP ... Review Noonan Syndrome.[GeneReviews(®). 1993]. Review Noonan Syndrome.. Roberts AE. GeneReviews(®). 1993 ...
D2.33.755.624.698.25 Acrocallosal Syndrome C10.500.70 C10.500.34.500 C16.131.666.70 C16.131.666.34.500 Acute Toxicity Tests ... D1.632.88.500 MELAS Syndrome C10.228.140.300.275.500 C14.907.253.329.500 Mepartricin D4.345.349.497 D9.408.477.497 Merbromin ... A8.800.800.60.275 Failed Back Surgery Syndrome C10.597.617.152.199 C10.597.617.232.199 Failure to Thrive C23.550.393.225 ... D9.408.477.330 Jervell-Lange Nielsen Syndrome C23.550.73.547.440 Jogging G11.427.590.530.698.610.320 G11.427.590.530.698.277. ...
Acrocallosal syndrome (disorder). Code System Preferred Concept Name. Acrocallosal syndrome (disorder). Concept Status. ... A polymalformation syndrome with main features of agenesis of corpus callosum, distal anomalies of limbs, minor craniofacial ... Multiple malformation syndrome with facial-limb defects as major feature (disorder) {23359005 , SNOMED-CT } ...
Acrocallosal Syndrome Entry term(s). Acrocallosal Syndromes Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus ... Acrocallosal Syndromes. Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum. Syndrome, Acrocallosal. ... Acrocallosal Syndrome - Preferred Concept UI. M0519414. Scope note. Autosomal recessive syndrome characterized by hypogenesis ... Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL ...
Acrocallosal Syndrome Preferred Concept UI. M0519414. Scope Note. Autosomal recessive syndrome characterized by hypogenesis or ... Acrocallosal Syndrome Preferred Term Term UI T716303. Date03/14/2008. LexicalTag NON. ThesaurusID ... Acrocallosal Syndrome. Tree Number(s). C10.500.034.500. C16.131.666.034.500. Unique ID. D055673. RDF Unique Identifier. http:// ... Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL ...
Acrocallosal Syndrome Preferred Concept UI. M0519414. Scope Note. Autosomal recessive syndrome characterized by hypogenesis or ... Acrocallosal Syndrome Preferred Term Term UI T716303. Date03/14/2008. LexicalTag NON. ThesaurusID ... Acrocallosal Syndrome. Tree Number(s). C10.500.034.500. C16.131.666.034.500. Unique ID. D055673. RDF Unique Identifier. http:// ... Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL ...
It may be isolated or a part of a syndrome (e.g., AICARDIS SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and ... for Absence of Corpus Callosum use Acrocallosal Syndrome 2009-2011; for Agenesis of Corpus Callosum use Aicardi Syndrome 2011 ... HN - 2012 BX - Hemangioma Thrombocytopenia Syndrome BX - Kasabach-Merritt Phenomenon BX - Thrombocytopenia-Hemangioma Syndrome ... it is referred to as abdominal compartment syndrome. HN - 2012 BX - Abdominal Compartment Syndrome MH - Intraabdominal ...
... including acrocallosal syndrome (with developmental delay and corpus callosum defects), Carpenter and Pfeiffer syndromes (with ... Meckel syndrome, Ellis-van Creveld syndrome, McKusick-Kaufman syndrome, Down syndrome Down Syndrome (Trisomy 21) Down syndrome ... The remaining cases are mostly due to underlying genetic syndromes such as Adams-Oliver syndrome or chromosomal abnormalities. ... Among the syndromes to be considered are Greig cephalopolysyndactyly syndrome, ...
D2.33.755.624.698.25 Acrocallosal Syndrome C10.500.70 C10.500.34.500 C16.131.666.70 C16.131.666.34.500 Acute Toxicity Tests ... D1.632.88.500 MELAS Syndrome C10.228.140.300.275.500 C14.907.253.329.500 Mepartricin D4.345.349.497 D9.408.477.497 Merbromin ... A8.800.800.60.275 Failed Back Surgery Syndrome C10.597.617.152.199 C10.597.617.232.199 Failure to Thrive C23.550.393.225 ... D9.408.477.330 Jervell-Lange Nielsen Syndrome C23.550.73.547.440 Jogging G11.427.590.530.698.610.320 G11.427.590.530.698.277. ...
Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome. ... Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome. Barañano, Kristin W; ... Relapsing-remitting clinical course expands the phenotype of Aicardi-Goutières syndrome. Lambe, Jeffrey; Murphy, Olwen C; Mu, ... Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. Deshwar, Ashish R; ...
  • The remaining cases are mostly due to underlying genetic syndromes such as Adams-Oliver syndrome or chromosomal abnormalities. (msdmanuals.com)
  • 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. (wikipedia.org)
  • Characteristics of this syndrome include agenesis of the corpus callosum, macrocephaly, hypertelorism, poor motor skills, intellectual disability, extra fingers and toes (particularly hallux duplication), and cleft palate. (wikipedia.org)
  • Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macroencephaly and severe mental retardation: a new syndrome? (wikipedia.org)
  • 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)
  • 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)
  • The syndrome was first described by Albert Schinzel in 1979. (wikipedia.org)
  • Acrocallosal syndrome (ACLS, ACS, Schinzel-type, Hallux-duplication) is a rare, heterogeneous autosomal recessive disorder first discovered by Albert Schinzel (1979) in a 3-year-old boy. (wikipedia.org)
  • 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)
  • Mutations in KIF7 are causative for ACLS, and mutations in GLI3 are associated with a similar syndrome. (wikipedia.org)
  • Mutations in the GLI3 gene may cause ACLS or similar syndromes such as Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, or certain types of polydactyly. (wikipedia.org)
  • ACLS may be differentiated from Greig cephalopolysyndactyly syndrome by the presence of intracranial cysts. (wikipedia.org)
  • 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)
  • Mutations in the KIF7 gene have been found to cause acrocallosal syndrome. (medlineplus.gov)
  • Congenital limb deficiencies have many causes and often occur as a component of various congenital syndromes. (msdmanuals.com)
  • Severe hypotonia can lead to fatal infant respiratory distress syndrome or apnea within the first days or weeks of life. (wikipedia.org)
  • 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)
  • 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)
  • 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)
  • De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. (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)
  • 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)
  • THOC6 intellectual disability syndrome is inherited in an autosomal recessive manner. (nih.gov)
  • In one study by Castilla et al, trisomy 13, Meckel syndrome, and Down syndrome accounted for most cases of polydactyly. (medscape.com)
  • Polydactyly is not often associated with congenital anomalies, except in recognizable syndromes. (medscape.com)
  • Other brain abnormalities, including the growth of large cysts in brain tissue, have also been reported in people with acrocallosal syndrome. (medlineplus.gov)
  • Major syndromes associated with ACC that are part of the extended ciliopathy spectrum. (medscape.com)
  • [ 13 ] Down syndrome was associated strongly with duplication of the first digit. (medscape.com)
  • They may involve only a single, specific site (eg, cleft lip, cleft palate, clubfoot) or be part of a syndrome of multiple. (msdmanuals.com)