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. The syndrome was first described by Albert Schinzel in 1979. Mutations in KIF7 are causative for ACLS, and mutations in GLI3 are associated with a similar syndrome.
17-479: [REDACTED] Look up acls in Wiktionary, the free dictionary. ACLS may refer to: Acrocallosal syndrome , a genetic disease Advanced cardiac life support , a set of clinical interventions for medical emergencies American Council of Learned Societies , a federation of scholarly organizations Axcelis Technologies , a company producing equipment for
34-456: A definitive diagnosis can be made if there is a phenotype that is caused by a Gcps and a Gli3 gene mutation. It can also be made if the person has a family member or relative with the disease. Possibly, antenatal ultrasound can detect macrocephaly, and a high-resolution ultrasound can detect polydactyly and syndactyly. There are a lot of differential diagnoses, including over 100 syndromes and disorders that can cause polydactyly. However, there are
51-429: A few diseases with an overlap that is significant. These diseases include: acrocallosal syndrome , carpenter syndrome , and Gorlin syndrome . The main treatment is surgery to fix the abnormalities in the limbs, like syndactyly. It is less important to repair the feet surgically, as it can cause complications, and it is not aesthetically important compared to the hands. If there is polydactyly with an extra digit that
68-410: A reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome. This condition is inherited in an autosomal dominant pattern, which means the defective gene is located on an autosome , and only one copy of the defective GLI3 gene is sufficient to cause the disorder. In cases of dominant inheritance, an affected person inherits
85-847: Is an extremely rare disorder, with 34 cases described in the literature as of 2005. Management of ACLS consists mainly of monitoring by a pediatric neuropsychiatrist and supportive therapies or accommodations such as occupational therapy and special education plans. Surgery may be considered in early childhood to remove extra digits in case of polydactyly or resolve orofacial defects such as cleft palate. If present, seizures and renal parenchymal hypertension may be treated with anticonvulsants and antihypertensive drugs , respectively. Patients may be offered genetic and vocational counselling when appropriate. Lifespan may range from stillbirth to normal expectancy depending on severity of hypotonia and onset of epilepsy . Severe hypotonia can lead to fatal infant respiratory distress syndrome or apnea within
102-601: Is different from Wikidata All article disambiguation pages All disambiguation pages Acrocallosal syndrome 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. 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 . Seizures may also occur. Mutations in
119-406: Is fully functional, then the digit can stay. Some people may have intellectual disability, though this condition usually causes only mild impairment. Developmental assistance and early specialist intervention should be offered in the case of intellectual disability. People should be tested as an individual and be given proper assistance. The outlook is usually good in the usual case of GCPS. Mostly,
136-1025: The GLI3 gene may cause ACLS or similar syndromes such as Greig cephalopolysyndactyly syndrome , Pallister–Hall syndrome , or certain types of polydactyly . KIF7 interacts with Gli transcription factors, so mutations in the KIF7 gene may be upstream effectors of GLI3, resulting in similar symptoms. ACLS is typically diagnosed on the basis of physical examination. At least three of four core criteria published by Courtens et al. (1997) must be present: The differential diagnosis includes Greig cephalopolysyndactyly syndrome , orofaciodigital syndrome types I and II, Meckel–Gruber syndrome , Smith–Lemli–Opitz syndrome , Rubinstein–Taybi syndrome , Cockayne syndrome , Aicardi syndrome , Neu–Laxova syndrome , Young–Madders syndrome , oto-palato-digital syndrome type 2, Toriello–Carey syndrome , and Da Silva syndromes. ACLS may be differentiated from Greig cephalopolysyndactyly syndrome by
153-575: The Gli3 gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormality, such as a large deletion or translocation of genetic material, in the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how
170-585: The KIF7 gene are causative for ACLS. KIF7 is a 1343 amino acid protein with a kinesin motor, coiled coil, and Gli-binding domains. It is associated with ciliary motor function and is a key factor in the ciliary Hedgehog signaling pathway that is crucial during embryogenesis. Mutations in Hedgehog signaling components such as KIF7 and GLI3 may lead to ciliopathies and defects in the brain and other areas associated with ACLS and related disorders. Mutations in
187-508: The GLI3 gene cause Greig cephalopolysyndactyly syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth. Different genetic changes involving
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#1732772217728204-436: The fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size ( macrocephaly ), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures and developmental delay. Greig cephalopolysyndactyly syndrome is a chromosomal condition related to chromosome 7. Mutations in
221-584: The first days or weeks of life. Conversely, in mild cases, subjects live relatively normal lives with some developmental delays and mild to moderate intellectual disability . Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes ( polydactyly ) or an abnormally wide thumb or big toe ( hallux ). The skin between
238-424: The genetic mutation or chromosomal abnormality from one affected parent. Rare instances of this disorder are sporadic, and occur in people with no history of the condition in their family. The disease is not easily definable. The main form of diagnosis is presumptive, if the person has the usual triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, macrocephaly, and hypertelorism. However,
255-466: The presence of intracranial cysts . ACLS may be suspected antenatally if a previous child is affected, as any subsequent child has a 25% chance of having ACLS. Obstetric ultrasonography or magnetic resonance imaging can reveal polydactyly and/or cerebral malformations from the 20th week of gestation. Chorionic villus sampling and molecular genetic testing can be performed to confirm whether mutations in disease-associated genes are present. ACLS
272-404: The same term [REDACTED] This disambiguation page lists articles associated with the title ACLS . If an internal link led you here, you may wish to change the link to point directly to the intended article. Retrieved from " https://en.wikipedia.org/w/index.php?title=ACLS&oldid=994958350 " Category : Disambiguation pages Hidden categories: Short description
289-563: The semiconductor manufacturing industry Automatic Carrier Landing System Association of Canada Lands Surveyors , the licensing body for professional surveyors practicing on federal lands in Canada See also [ edit ] [REDACTED] Search for "acls" on Misplaced Pages. ACL (disambiguation) CLS (disambiguation) CL (disambiguation) All pages with titles beginning with ACLS All pages with titles containing ACLS Topics referred to by
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